Linked Data
ClinVar Variation Id:
1674420
ClinVar RCV Id:
RCV002206660
dbSNP Id:
rs2104104616
MyVariant Identifiers:
chr2:g.73799660G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572533G>A , CM000664.2:g.73572533G>A | GRCh38 |
| NC_000002.11:g.73799660G>A , CM000664.1:g.73799660G>A | GRCh37 |
| NC_000002.10:g.73653168G>A | NCBI36 |
| NG_011690.1:g.191781G>A , LRG_741:g.191781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10275G>A | ENSP00000507671.1:p.Val3425= | |
| ENST00000682801.1:c.10275G>A | ENSP00000507862.1:p.Val3425= | |
| ENST00000682859.1:c.10275G>A | ENSP00000508222.1:p.Val3425= | |
| ENST00000683791.1:c.3361G>A | ||
| ENST00000684460.1:c.7556G>A | ||
| ENST00000684548.1:c.10275G>A | ENSP00000507421.1:p.Val3425= | |
| ENST00000684590.1:c.4722G>A | ENSP00000507376.1:p.Val1574= | |
| ENST00000684656.1:c.7601G>A | ||
| ENST00000613296.6:c.10656G>A MANE Select | ENSP00000482968.1:p.Val3552= | |
| ENST00000651057.1:c.810G>A | ENSP00000498504.1:p.Val270= | |
| ENST00000651434.1:c.2012G>A | ||
| ENST00000651750.1:c.44G>A | ||
| ENST00000652487.1:c.1753G>A | ||
| ENST00000423048.5:c.4147G>A | ENSP00000399833.1:n.4147G>A | |
| ENST00000484298.5:c.10530G>A | ENSP00000478155.1:p.Val3510= | |
| ENST00000613296.4:c.10656G>A | ENSP00000482968.1:p.Val3552= | |
| ENST00000614410.4:c.10656G>A | ENSP00000479094.1:p.Val3552= | |
| ENST00000620466.4:n.4459G>A | ||
| NM_015120.4:c.10659G>A , LRG_741t1:c.10659G>A | NP_055935.4:p.Val3553= | |
| NM_001378454.1:c.10656G>A MANE Select | NP_001365383.1:p.Val3552= |