Linked Data
ClinVar Variation Id:
1528442
ClinVar RCV Id:
RCV002071261
dbSNP Id:
rs2103891110
gnomAD v4:
2-73490188-T-C
MyVariant Identifiers:
chr2:g.73717315T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490188T>C , CM000664.2:g.73490188T>C | GRCh38 |
| NC_000002.11:g.73717315T>C , CM000664.1:g.73717315T>C | GRCh37 |
| NC_000002.10:g.73570823T>C | NCBI36 |
| NG_011690.1:g.109436T>C , LRG_741:g.109436T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7848T>C | ENSP00000507671.1:p.Thr2616= | |
| ENST00000682801.1:c.7848T>C | ENSP00000507862.1:p.Thr2616= | |
| ENST00000682859.1:c.7848T>C | ENSP00000508222.1:p.Thr2616= | |
| ENST00000683791.1:c.1240T>C | ||
| ENST00000684460.1:c.5300T>C | ||
| ENST00000684548.1:c.7848T>C | ENSP00000507421.1:p.Thr2616= | |
| ENST00000684590.1:c.2295T>C | ENSP00000507376.1:p.Thr765= | |
| ENST00000684656.1:c.5300T>C | ||
| ENST00000613296.6:c.8229T>C MANE Select | ENSP00000482968.1:p.Thr2743= | |
| ENST00000651434.1:c.896-29587T>C | ||
| ENST00000423048.5:c.3030+30T>C | ENSP00000399833.1:n.3030+30T>C | |
| ENST00000484298.5:c.8103T>C | ENSP00000478155.1:p.Thr2701= | |
| ENST00000613296.4:c.8229T>C | ENSP00000482968.1:p.Thr2743= | |
| ENST00000614410.4:c.8229T>C | ENSP00000479094.1:p.Thr2743= | |
| ENST00000620466.4:n.2032T>C | ||
| NM_015120.4:c.8232T>C , LRG_741t1:c.8232T>C | NP_055935.4:p.Thr2744= | |
| NM_001378454.1:c.8229T>C MANE Select | NP_001365383.1:p.Thr2743= |