Linked Data
ClinVar Variation Id:
1652085
ClinVar RCV Id:
RCV002155925
dbSNP Id:
rs2103891110
MyVariant Identifiers:
chr2:g.73717315T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490188T>A , CM000664.2:g.73490188T>A | GRCh38 |
| NC_000002.11:g.73717315T>A , CM000664.1:g.73717315T>A | GRCh37 |
| NC_000002.10:g.73570823T>A | NCBI36 |
| NG_011690.1:g.109436T>A , LRG_741:g.109436T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7848T>A | ENSP00000507671.1:p.Thr2616= | |
| ENST00000682801.1:c.7848T>A | ENSP00000507862.1:p.Thr2616= | |
| ENST00000682859.1:c.7848T>A | ENSP00000508222.1:p.Thr2616= | |
| ENST00000683791.1:c.1240T>A | ||
| ENST00000684460.1:c.5300T>A | ||
| ENST00000684548.1:c.7848T>A | ENSP00000507421.1:p.Thr2616= | |
| ENST00000684590.1:c.2295T>A | ENSP00000507376.1:p.Thr765= | |
| ENST00000684656.1:c.5300T>A | ||
| ENST00000613296.6:c.8229T>A MANE Select | ENSP00000482968.1:p.Thr2743= | |
| ENST00000651434.1:c.896-29587T>A | ||
| ENST00000423048.5:c.3030+30T>A | ENSP00000399833.1:n.3030+30T>A | |
| ENST00000484298.5:c.8103T>A | ENSP00000478155.1:p.Thr2701= | |
| ENST00000613296.4:c.8229T>A | ENSP00000482968.1:p.Thr2743= | |
| ENST00000614410.4:c.8229T>A | ENSP00000479094.1:p.Thr2743= | |
| ENST00000620466.4:n.2032T>A | ||
| NM_015120.4:c.8232T>A , LRG_741t1:c.8232T>A | NP_055935.4:p.Thr2744= | |
| NM_001378454.1:c.8229T>A MANE Select | NP_001365383.1:p.Thr2743= |