Linked Data
ClinVar Variation Id:
1788972
ClinVar RCV Id:
RCV002446120
dbSNP Id:
rs2105986338
MyVariant Identifiers:
chr2:g.215593451G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728727G>A , CM000664.2:g.214728727G>A | GRCh38 |
| NC_000002.11:g.215593451G>A , CM000664.1:g.215593451G>A | GRCh37 |
| NC_000002.10:g.215301696G>A | NCBI36 |
| NG_012047.2:g.85978C>T | |
| NG_012047.3:g.85985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2283C>T MANE Select | ENSP00000260947.4:p.Ser761= | |
| ENST00000421162.2:c.930C>T | ENSP00000392245.2:p.Ser310= | |
| ENST00000613192.2:c.*346C>T | ENSP00000483275.2:n.*346C>T | |
| ENST00000613374.5:c.873C>T | ENSP00000484464.1:p.Ser291= | |
| ENST00000613706.5:c.1875C>T | ENSP00000484976.2:p.Ser625= | |
| ENST00000617164.5:c.2226C>T | ENSP00000480470.1:p.Ser742= | |
| ENST00000619009.5:c.744C>T | ENSP00000482293.1:p.Ser248= | |
| ENST00000650978.1:c.3658C>T | ||
| ENST00000260947.8:c.2283C>T | ENSP00000260947.4:p.Ser761= | |
| ENST00000432456.5:c.426C>T | ||
| ENST00000455743.5:c.*1903C>T | ENSP00000412186.1:n.*1903C>T | |
| ENST00000471590.5:n.618C>T | ||
| ENST00000613192.1:c.453C>T | ENSP00000483275.1:p.Ser151= | |
| ENST00000613374.4:c.873C>T | ENSP00000484464.1:p.Ser291= | |
| ENST00000613706.4:c.930C>T | ENSP00000484976.1:p.Ser310= | |
| ENST00000617164.4:c.2226C>T | ENSP00000480470.1:p.Ser742= | |
| ENST00000619009.4:c.744C>T | ENSP00000482293.1:p.Ser248= | |
| ENST00000620057.4:c.*949C>T | ENSP00000481988.1:n.*949C>T | |
| NM_000465.3:c.2283C>T | NP_000456.2:p.Ser761= | |
| NM_001282543.1:c.2226C>T | NP_001269472.1:p.Ser742= | |
| NM_001282545.1:c.930C>T | NP_001269474.1:p.Ser310= | |
| NM_001282548.1:c.873C>T | NP_001269477.1:p.Ser291= | |
| NM_001282549.1:c.744C>T | NP_001269478.1:p.Ser248= | |
| NR_104212.1:n.2276C>T | ||
| NR_104215.1:n.2219C>T | ||
| NR_104216.1:n.1475C>T | ||
| XM_011511567.1:c.2229C>T | XP_011509869.1:p.Ser743= | |
| XM_017004613.1:c.2382C>T | XP_016860102.1:p.Ser794= | |
| XR_002959322.1:n.2649C>T | ||
| NM_000465.4:c.2283C>T MANE Select | NP_000456.2:p.Ser761= | |
| NM_001282543.2:c.2226C>T | NP_001269472.1:p.Ser742= | |
| NM_001282545.2:c.930C>T | NP_001269474.1:p.Ser310= | |
| NM_001282548.2:c.873C>T | NP_001269477.1:p.Ser291= | |
| NM_001282549.2:c.744C>T | NP_001269478.1:p.Ser248= | |
| NR_104212.2:n.2248C>T | ||
| NR_104215.2:n.2191C>T | ||
| NR_104216.2:n.1447C>T |