TCN2 Chromosome 22
Transcobalamin 2
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What This Gene Does
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Associated Conditions (4)
Transcobalamin II deficiency
Inborn genetic diseases
TCN2-related disorder
Pancytopenia
Key Variants
RS1017195499
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency
Health Risk
RS138738105
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Transcobalamin II deficiency
Health Risk
RS142553702
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency
Health Risk
RS142689742
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Transcobalamin II deficiency
Health Risk
RS142791153
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, TCN2-related disorder, Inborn genetic diseases
Health Risk
RS143250551
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Transcobalamin II deficiency
Health Risk
RS146009793
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency
Health Risk
RS146036025
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Transcobalamin II deficiency
Health Risk
RS148963479
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, TCN2-related disorder, Transcobalamin II deficiency
Health Risk
RS150225103
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, TCN2-related disorder, Transcobalamin II deficiency
Health Risk
RS200771616
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Transcobalamin II deficiency
Health Risk
RS201344377
Conflicting classifications of pathogenicity
Transcobalamin II deficiency, Transcobalamin II deficiency
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1017195499 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency |
| RS138738105 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS142553702 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency |
| RS142689742 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS142791153 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, TCN2-related disorder, Inborn genetic diseases |
| RS143250551 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS146009793 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency |
| RS146036025 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS148963479 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, TCN2-related disorder, Transcobalamin II deficiency |
| RS150225103 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, TCN2-related disorder, Transcobalamin II deficiency |
| RS200771616 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS201344377 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS201408393 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, TCN2-related disorder, Transcobalamin II deficiency |
| RS201925682 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency |
| RS2517894740 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency |
| RS35997415 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS376839271 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS537115632 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS61743653 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS61748898 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS7290898 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS760721315 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency |
| RS772074405 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Inborn genetic diseases, Transcobalamin II deficiency |
| RS776493564 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS778381859 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Transcobalamin II deficiency, Inborn genetic diseases |
| RS886057397 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1166150272 | Health Risk | Likely pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1387442810 | Health Risk | Likely pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1555895069 | Health Risk | Likely pathogenic | — |
| RS2087597945 | Health Risk | Likely pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2087811676 | Health Risk | Likely pathogenic | — |
| RS2145536487 | Health Risk | Likely pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2145536823 | Health Risk | Likely pathogenic | — |
| RS2517912354 | Health Risk | Likely pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1157135425 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1252562083 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1279321570 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1461973241 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1555895066 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS1602043738 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2087528394 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2087532435 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2087564577 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2087582545 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2087630072 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2087720794 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2145536721 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2145545140 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2145548128 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS2517900064 | Health Risk | Pathogenic | Transcobalamin II deficiency, Transcobalamin II deficiency |