Linked Data
ClinVar Variation Id:
1620214
dbSNP Id:
rs1692189937
MyVariant Identifiers:
chr2:g.215593415A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728691A>G , CM000664.2:g.214728691A>G | GRCh38 |
| NC_000002.11:g.215593415A>G , CM000664.1:g.215593415A>G | GRCh37 |
| NC_000002.10:g.215301660A>G | NCBI36 |
| NG_012047.2:g.86014T>C | |
| NG_012047.3:g.86021T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2319T>C MANE Select | ENSP00000260947.4:p.Leu773= | |
| ENST00000421162.2:c.966T>C | ENSP00000392245.2:p.Leu322= | |
| ENST00000613192.2:c.*382T>C | ENSP00000483275.2:n.*382T>C | |
| ENST00000613374.5:c.909T>C | ENSP00000484464.1:p.Leu303= | |
| ENST00000613706.5:c.1911T>C | ENSP00000484976.2:p.Leu637= | |
| ENST00000617164.5:c.2262T>C | ENSP00000480470.1:p.Leu754= | |
| ENST00000619009.5:c.780T>C | ENSP00000482293.1:p.Leu260= | |
| ENST00000650978.1:c.3694T>C | ||
| ENST00000260947.8:c.2319T>C | ENSP00000260947.4:p.Leu773= | |
| ENST00000432456.5:c.462T>C | ||
| ENST00000471590.5:n.654T>C | ||
| ENST00000613192.1:c.489T>C | ENSP00000483275.1:p.Leu163= | |
| ENST00000613374.4:c.909T>C | ENSP00000484464.1:p.Leu303= | |
| ENST00000613706.4:c.966T>C | ENSP00000484976.1:p.Leu322= | |
| ENST00000617164.4:c.2262T>C | ENSP00000480470.1:p.Leu754= | |
| ENST00000619009.4:c.780T>C | ENSP00000482293.1:p.Leu260= | |
| ENST00000620057.4:c.*985T>C | ENSP00000481988.1:n.*985T>C | |
| NM_000465.3:c.2319T>C | NP_000456.2:p.Leu773= | |
| NM_001282543.1:c.2262T>C | NP_001269472.1:p.Leu754= | |
| NM_001282545.1:c.966T>C | NP_001269474.1:p.Leu322= | |
| NM_001282548.1:c.909T>C | NP_001269477.1:p.Leu303= | |
| NM_001282549.1:c.780T>C | NP_001269478.1:p.Leu260= | |
| NR_104212.1:n.2312T>C | ||
| NR_104215.1:n.2255T>C | ||
| NR_104216.1:n.1511T>C | ||
| XM_011511567.1:c.2265T>C | XP_011509869.1:p.Leu755= | |
| XM_017004613.1:c.2418T>C | XP_016860102.1:p.Leu806= | |
| XR_002959322.1:n.2685T>C | ||
| NM_000465.4:c.2319T>C MANE Select | NP_000456.2:p.Leu773= | |
| NM_001282543.2:c.2262T>C | NP_001269472.1:p.Leu754= | |
| NM_001282545.2:c.966T>C | NP_001269474.1:p.Leu322= | |
| NM_001282548.2:c.909T>C | NP_001269477.1:p.Leu303= | |
| NM_001282549.2:c.780T>C | NP_001269478.1:p.Leu260= | |
| NR_104212.2:n.2284T>C | ||
| NR_104215.2:n.2227T>C | ||
| NR_104216.2:n.1483T>C |