Linked Data
ClinVar Variation Id:
2701110
ClinVar RCV Id:
RCV003549541
gnomAD v4:
2-88575290-T-C
MyVariant Identifiers:
chr2:g.88874808T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575290T>C , CM000664.2:g.88575290T>C | GRCh38 |
| NC_000002.11:g.88874808T>C , CM000664.1:g.88874808T>C | GRCh37 |
| NC_000002.10:g.88655923T>C | NCBI36 |
| NG_016424.1:g.57287A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2021A>G | ||
| ENST00000682276.1:n.1638A>G | ||
| ENST00000682892.1:c.1740A>G | ENSP00000507214.1:p.Thr580= | |
| ENST00000682952.1:n.1832A>G | ||
| ENST00000684455.1:c.1406A>G | ||
| ENST00000684642.1:c.1590A>G | ENSP00000507355.1:p.Thr530= | |
| ENST00000684740.1:n.2371A>G | ||
| ENST00000303236.9:c.2193A>G MANE Select | ENSP00000307235.3:p.Thr731= | |
| ENST00000652099.1:c.2387A>G | ||
| ENST00000652736.1:n.2069A>G | ||
| ENST00000303236.7:c.2193A>G | ENSP00000307235.3:p.Thr731= | |
| ENST00000415570.1:c.1830A>G | ENSP00000412076.1:p.Thr610= | |
| ENST00000419748.5:c.1740A>G | ENSP00000408325.1:p.Thr580= | |
| ENST00000470706.1:n.48+71A>G | ||
| NM_001313915.1:c.1740A>G | NP_001300844.1:p.Thr580= | |
| NM_004836.5:c.2193A>G | NP_004827.4:p.Thr731= | |
| NM_004836.6:c.2193A>G | NP_004827.4:p.Thr731= | |
| NR_110236.1:n.1427T>C | ||
| XM_005264649.3:c.1509A>G | XP_005264706.1:p.Thr503= | |
| XR_939749.1:n.2472A>G | ||
| XM_017005376.2:c.1509A>G | XP_016860865.1:p.Thr503= | |
| NM_004836.7:c.2193A>G MANE Select | NP_004827.4:p.Thr731= | |
| NM_001313915.2:c.1740A>G | NP_001300844.1:p.Thr580= |