Linked Data
ClinVar Variation Id:
2788501
ClinVar RCV Id:
RCV003609473
MyVariant Identifiers:
chr2:g.73717426A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490299A>C , CM000664.2:g.73490299A>C | GRCh38 |
| NC_000002.11:g.73717426A>C , CM000664.1:g.73717426A>C | GRCh37 |
| NC_000002.10:g.73570934A>C | NCBI36 |
| NG_011690.1:g.109547A>C , LRG_741:g.109547A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7959A>C | ENSP00000507671.1:p.Ser2653= | |
| ENST00000682801.1:c.7959A>C | ENSP00000507862.1:p.Ser2653= | |
| ENST00000682859.1:c.7959A>C | ENSP00000508222.1:p.Ser2653= | |
| ENST00000683791.1:c.1351A>C | ||
| ENST00000684460.1:c.5411A>C | ||
| ENST00000684548.1:c.7959A>C | ENSP00000507421.1:p.Ser2653= | |
| ENST00000684590.1:c.2406A>C | ENSP00000507376.1:p.Ser802= | |
| ENST00000684656.1:c.5411A>C | ||
| ENST00000613296.6:c.8340A>C MANE Select | ENSP00000482968.1:p.Ser2780= | |
| ENST00000651434.1:c.896-29476A>C | ||
| ENST00000423048.5:c.3030+141A>C | ENSP00000399833.1:n.3030+141A>C | |
| ENST00000484298.5:c.8214A>C | ENSP00000478155.1:p.Ser2738= | |
| ENST00000613296.4:c.8340A>C | ENSP00000482968.1:p.Ser2780= | |
| ENST00000614410.4:c.8340A>C | ENSP00000479094.1:p.Ser2780= | |
| ENST00000620466.4:n.2143A>C | ||
| NM_015120.4:c.8343A>C , LRG_741t1:c.8343A>C | NP_055935.4:p.Ser2781= | |
| NM_001378454.1:c.8340A>C MANE Select | NP_001365383.1:p.Ser2780= |