Linked Data
ClinVar Variation Id:
1620215
ClinVar RCV Id:
RCV002098986
dbSNP Id:
rs1692192527
MyVariant Identifiers:
chr2:g.215593439G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728715G>A , CM000664.2:g.214728715G>A | GRCh38 |
| NC_000002.11:g.215593439G>A , CM000664.1:g.215593439G>A | GRCh37 |
| NC_000002.10:g.215301684G>A | NCBI36 |
| NG_012047.2:g.85990C>T | |
| NG_012047.3:g.85997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2295C>T MANE Select | ENSP00000260947.4:p.Asp765= | |
| ENST00000421162.2:c.942C>T | ENSP00000392245.2:p.Asp314= | |
| ENST00000613192.2:c.*358C>T | ENSP00000483275.2:n.*358C>T | |
| ENST00000613374.5:c.885C>T | ENSP00000484464.1:p.Asp295= | |
| ENST00000613706.5:c.1887C>T | ENSP00000484976.2:p.Asp629= | |
| ENST00000617164.5:c.2238C>T | ENSP00000480470.1:p.Asp746= | |
| ENST00000619009.5:c.756C>T | ENSP00000482293.1:p.Asp252= | |
| ENST00000650978.1:c.3670C>T | ||
| ENST00000260947.8:c.2295C>T | ENSP00000260947.4:p.Asp765= | |
| ENST00000432456.5:c.438C>T | ||
| ENST00000455743.5:c.*1915C>T | ENSP00000412186.1:n.*1915C>T | |
| ENST00000471590.5:n.630C>T | ||
| ENST00000613192.1:c.465C>T | ENSP00000483275.1:p.Asp155= | |
| ENST00000613374.4:c.885C>T | ENSP00000484464.1:p.Asp295= | |
| ENST00000613706.4:c.942C>T | ENSP00000484976.1:p.Asp314= | |
| ENST00000617164.4:c.2238C>T | ENSP00000480470.1:p.Asp746= | |
| ENST00000619009.4:c.756C>T | ENSP00000482293.1:p.Asp252= | |
| ENST00000620057.4:c.*961C>T | ENSP00000481988.1:n.*961C>T | |
| NM_000465.3:c.2295C>T | NP_000456.2:p.Asp765= | |
| NM_001282543.1:c.2238C>T | NP_001269472.1:p.Asp746= | |
| NM_001282545.1:c.942C>T | NP_001269474.1:p.Asp314= | |
| NM_001282548.1:c.885C>T | NP_001269477.1:p.Asp295= | |
| NM_001282549.1:c.756C>T | NP_001269478.1:p.Asp252= | |
| NR_104212.1:n.2288C>T | ||
| NR_104215.1:n.2231C>T | ||
| NR_104216.1:n.1487C>T | ||
| XM_011511567.1:c.2241C>T | XP_011509869.1:p.Asp747= | |
| XM_017004613.1:c.2394C>T | XP_016860102.1:p.Asp798= | |
| XR_002959322.1:n.2661C>T | ||
| NM_000465.4:c.2295C>T MANE Select | NP_000456.2:p.Asp765= | |
| NM_001282543.2:c.2238C>T | NP_001269472.1:p.Asp746= | |
| NM_001282545.2:c.942C>T | NP_001269474.1:p.Asp314= | |
| NM_001282548.2:c.885C>T | NP_001269477.1:p.Asp295= | |
| NM_001282549.2:c.756C>T | NP_001269478.1:p.Asp252= | |
| NR_104212.2:n.2260C>T | ||
| NR_104215.2:n.2203C>T | ||
| NR_104216.2:n.1459C>T |