Linked Data
ClinVar Variation Id:
707786
dbSNP Id:
rs749959440
MyVariant Identifiers:
chr2:g.215593454C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728730C>G , CM000664.2:g.214728730C>G | GRCh38 |
| NC_000002.11:g.215593454C>G , CM000664.1:g.215593454C>G | GRCh37 |
| NC_000002.10:g.215301699C>G | NCBI36 |
| NG_012047.2:g.85975G>C | |
| NG_012047.3:g.85982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2280G>C MANE Select | ENSP00000260947.4:p.Ser760= | |
| ENST00000421162.2:c.927G>C | ENSP00000392245.2:p.Ser309= | |
| ENST00000613192.2:c.*343G>C | ENSP00000483275.2:n.*343G>C | |
| ENST00000613374.5:c.870G>C | ENSP00000484464.1:p.Ser290= | |
| ENST00000613706.5:c.1872G>C | ENSP00000484976.2:p.Ser624= | |
| ENST00000617164.5:c.2223G>C | ENSP00000480470.1:p.Ser741= | |
| ENST00000619009.5:c.741G>C | ENSP00000482293.1:p.Ser247= | |
| ENST00000650978.1:c.3655G>C | ||
| ENST00000260947.8:c.2280G>C | ENSP00000260947.4:p.Ser760= | |
| ENST00000432456.5:c.423G>C | ||
| ENST00000455743.5:c.*1900G>C | ENSP00000412186.1:n.*1900G>C | |
| ENST00000471590.5:n.615G>C | ||
| ENST00000613192.1:c.450G>C | ENSP00000483275.1:p.Ser150= | |
| ENST00000613374.4:c.870G>C | ENSP00000484464.1:p.Ser290= | |
| ENST00000613706.4:c.927G>C | ENSP00000484976.1:p.Ser309= | |
| ENST00000617164.4:c.2223G>C | ENSP00000480470.1:p.Ser741= | |
| ENST00000619009.4:c.741G>C | ENSP00000482293.1:p.Ser247= | |
| ENST00000620057.4:c.*946G>C | ENSP00000481988.1:n.*946G>C | |
| NM_000465.3:c.2280G>C | NP_000456.2:p.Ser760= | |
| NM_001282543.1:c.2223G>C | NP_001269472.1:p.Ser741= | |
| NM_001282545.1:c.927G>C | NP_001269474.1:p.Ser309= | |
| NM_001282548.1:c.870G>C | NP_001269477.1:p.Ser290= | |
| NM_001282549.1:c.741G>C | NP_001269478.1:p.Ser247= | |
| NR_104212.1:n.2273G>C | ||
| NR_104215.1:n.2216G>C | ||
| NR_104216.1:n.1472G>C | ||
| XM_011511567.1:c.2226G>C | XP_011509869.1:p.Ser742= | |
| XM_017004613.1:c.2379G>C | XP_016860102.1:p.Ser793= | |
| XR_002959322.1:n.2646G>C | ||
| NM_000465.4:c.2280G>C MANE Select | NP_000456.2:p.Ser760= | |
| NM_001282543.2:c.2223G>C | NP_001269472.1:p.Ser741= | |
| NM_001282545.2:c.927G>C | NP_001269474.1:p.Ser309= | |
| NM_001282548.2:c.870G>C | NP_001269477.1:p.Ser290= | |
| NM_001282549.2:c.741G>C | NP_001269478.1:p.Ser247= | |
| NR_104212.2:n.2245G>C | ||
| NR_104215.2:n.2188G>C | ||
| NR_104216.2:n.1444G>C |