Linked Data
ClinVar Variation Id:
2960958
ClinVar RCV Id:
RCV003819669
dbSNP Id:
rs143331809
MyVariant Identifiers:
chr2:g.215593562C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728838C>G , CM000664.2:g.214728838C>G | GRCh38 |
| NC_000002.11:g.215593562C>G , CM000664.1:g.215593562C>G | GRCh37 |
| NC_000002.10:g.215301807C>G | NCBI36 |
| NG_012047.2:g.85867G>C | |
| NG_012047.3:g.85874G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2172G>C MANE Select | ENSP00000260947.4:p.Ala724= | |
| ENST00000421162.2:c.819G>C | ENSP00000392245.2:p.Ala273= | |
| ENST00000613192.2:c.*235G>C | ENSP00000483275.2:n.*235G>C | |
| ENST00000613374.5:c.762G>C | ENSP00000484464.1:p.Ala254= | |
| ENST00000613706.5:c.1764G>C | ENSP00000484976.2:p.Ala588= | |
| ENST00000617164.5:c.2115G>C | ENSP00000480470.1:p.Ala705= | |
| ENST00000619009.5:c.633G>C | ENSP00000482293.1:p.Ala211= | |
| ENST00000650978.1:c.3547G>C | ||
| ENST00000260947.8:c.2172G>C | ENSP00000260947.4:p.Ala724= | |
| ENST00000432456.5:c.315G>C | ||
| ENST00000455743.5:c.*1792G>C | ENSP00000412186.1:n.*1792G>C | |
| ENST00000471590.5:n.507G>C | ||
| ENST00000613192.1:c.342G>C | ENSP00000483275.1:p.Ala114= | |
| ENST00000613374.4:c.762G>C | ENSP00000484464.1:p.Ala254= | |
| ENST00000613706.4:c.819G>C | ENSP00000484976.1:p.Ala273= | |
| ENST00000617164.4:c.2115G>C | ENSP00000480470.1:p.Ala705= | |
| ENST00000619009.4:c.633G>C | ENSP00000482293.1:p.Ala211= | |
| ENST00000620057.4:c.*838G>C | ENSP00000481988.1:n.*838G>C | |
| NM_000465.3:c.2172G>C | NP_000456.2:p.Ala724= | |
| NM_001282543.1:c.2115G>C | NP_001269472.1:p.Ala705= | |
| NM_001282545.1:c.819G>C | NP_001269474.1:p.Ala273= | |
| NM_001282548.1:c.762G>C | NP_001269477.1:p.Ala254= | |
| NM_001282549.1:c.633G>C | NP_001269478.1:p.Ala211= | |
| NR_104212.1:n.2165G>C | ||
| NR_104215.1:n.2108G>C | ||
| NR_104216.1:n.1364G>C | ||
| XM_011511567.1:c.2118G>C | XP_011509869.1:p.Ala706= | |
| XM_017004613.1:c.2271G>C | XP_016860102.1:p.Ala757= | |
| XR_002959322.1:n.2538G>C | ||
| NM_000465.4:c.2172G>C MANE Select | NP_000456.2:p.Ala724= | |
| NM_001282543.2:c.2115G>C | NP_001269472.1:p.Ala705= | |
| NM_001282545.2:c.819G>C | NP_001269474.1:p.Ala273= | |
| NM_001282548.2:c.762G>C | NP_001269477.1:p.Ala254= | |
| NM_001282549.2:c.633G>C | NP_001269478.1:p.Ala211= | |
| NR_104212.2:n.2137G>C | ||
| NR_104215.2:n.2080G>C | ||
| NR_104216.2:n.1336G>C |