Linked Data
ClinVar Variation Id:
2827664
ClinVar RCV Id:
RCV003683728
gnomAD v4:
2-88575224-C-T
MyVariant Identifiers:
chr2:g.88874742C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575224C>T , CM000664.2:g.88575224C>T | GRCh38 |
| NC_000002.11:g.88874742C>T , CM000664.1:g.88874742C>T | GRCh37 |
| NC_000002.10:g.88655857C>T | NCBI36 |
| NG_016424.1:g.57353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2087G>A | ||
| ENST00000682276.1:n.1704G>A | ||
| ENST00000682892.1:c.1806G>A | ENSP00000507214.1:p.Glu602= | |
| ENST00000682952.1:n.1898G>A | ||
| ENST00000684455.1:c.1472G>A | ||
| ENST00000684642.1:c.1656G>A | ENSP00000507355.1:p.Glu552= | |
| ENST00000684740.1:n.2437G>A | ||
| ENST00000303236.9:c.2259G>A MANE Select | ENSP00000307235.3:p.Glu753= | |
| ENST00000652099.1:c.2453G>A | ||
| ENST00000652736.1:n.2135G>A | ||
| ENST00000303236.7:c.2259G>A | ENSP00000307235.3:p.Glu753= | |
| ENST00000415570.1:c.1896G>A | ENSP00000412076.1:p.Glu632= | |
| ENST00000419748.5:c.1806G>A | ENSP00000408325.1:p.Glu602= | |
| ENST00000470706.1:n.48+137G>A | ||
| NM_001313915.1:c.1806G>A | NP_001300844.1:p.Glu602= | |
| NM_004836.5:c.2259G>A | NP_004827.4:p.Glu753= | |
| NM_004836.6:c.2259G>A | NP_004827.4:p.Glu753= | |
| NR_110236.1:n.1361C>T | ||
| XM_005264649.3:c.1575G>A | XP_005264706.1:p.Glu525= | |
| XM_017005376.2:c.1575G>A | XP_016860865.1:p.Glu525= | |
| NM_004836.7:c.2259G>A MANE Select | NP_004827.4:p.Glu753= | |
| NM_001313915.2:c.1806G>A | NP_001300844.1:p.Glu602= |