Linked Data
ClinVar Variation Id:
2774778
ClinVar RCV Id:
RCV003585965
MyVariant Identifiers:
chr2:g.215609882T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745158T>G , CM000664.2:g.214745158T>G | GRCh38 |
| NC_000002.11:g.215609882T>G , CM000664.1:g.215609882T>G | GRCh37 |
| NC_000002.10:g.215318127T>G | NCBI36 |
| NG_012047.2:g.69547A>C | |
| NG_012047.3:g.69554A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1812A>C MANE Select | ENSP00000260947.4:p.Val604= | |
| ENST00000421162.2:c.459A>C | ENSP00000392245.2:p.Val153= | |
| ENST00000613192.2:c.159-14650A>C | ENSP00000483275.2:n.159-14650A>C | |
| ENST00000613374.5:c.402A>C | ENSP00000484464.1:p.Val134= | |
| ENST00000613706.5:c.1404A>C | ENSP00000484976.2:p.Val468= | |
| ENST00000617164.5:c.1755A>C | ENSP00000480470.1:p.Val585= | |
| ENST00000619009.5:c.365-14650A>C | ENSP00000482293.1:n.365-14650A>C | |
| ENST00000650978.1:c.3187A>C | ||
| ENST00000260947.8:c.1812A>C | ENSP00000260947.4:p.Val604= | |
| ENST00000421162.1:c.459A>C | ENSP00000392245.1:p.Val153= | |
| ENST00000455743.5:c.*1432A>C | ENSP00000412186.1:n.*1432A>C | |
| ENST00000613192.1:c.74-14650A>C | ENSP00000483275.1:n.74-14650A>C | |
| ENST00000613374.4:c.402A>C | ENSP00000484464.1:p.Val134= | |
| ENST00000613706.4:c.459A>C | ENSP00000484976.1:p.Val153= | |
| ENST00000617164.4:c.1755A>C | ENSP00000480470.1:p.Val585= | |
| ENST00000619009.4:c.365-14650A>C | ENSP00000482293.1:n.365-14650A>C | |
| ENST00000620057.4:c.*478A>C | ENSP00000481988.1:n.*478A>C | |
| NM_000465.3:c.1812A>C | NP_000456.2:p.Val604= | |
| NM_001282543.1:c.1755A>C | NP_001269472.1:p.Val585= | |
| NM_001282545.1:c.459A>C | NP_001269474.1:p.Val153= | |
| NM_001282548.1:c.402A>C | NP_001269477.1:p.Val134= | |
| NM_001282549.1:c.365-14650A>C | NP_001269478.1:n.365-14650A>C | |
| NR_104212.1:n.1805A>C | ||
| NR_104215.1:n.1748A>C | ||
| NR_104216.1:n.1004A>C | ||
| XM_011511567.1:c.1758A>C | XP_011509869.1:p.Val586= | |
| XM_011511568.1:c.1812A>C | XP_011509870.1:p.Val604= | |
| XM_017004613.1:c.1911A>C | XP_016860102.1:p.Val637= | |
| XM_017004614.1:c.1911A>C | XP_016860103.1:p.Val637= | |
| XR_002959322.1:n.2002A>C | ||
| NM_000465.4:c.1812A>C MANE Select | NP_000456.2:p.Val604= | |
| NM_001282543.2:c.1755A>C | NP_001269472.1:p.Val585= | |
| NM_001282545.2:c.459A>C | NP_001269474.1:p.Val153= | |
| NM_001282548.2:c.402A>C | NP_001269477.1:p.Val134= | |
| NM_001282549.2:c.365-14650A>C | NP_001269478.1:n.365-14650A>C | |
| NR_104212.2:n.1777A>C | ||
| NR_104215.2:n.1720A>C | ||
| NR_104216.2:n.976A>C |