Linked Data
ClinVar Variation Id:
1162174
ClinVar RCV Id:
RCV001506949
dbSNP Id:
rs2105990746
MyVariant Identifiers:
chr2:g.215595198T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730474T>C , CM000664.2:g.214730474T>C | GRCh38 |
| NC_000002.11:g.215595198T>C , CM000664.1:g.215595198T>C | GRCh37 |
| NC_000002.10:g.215303443T>C | NCBI36 |
| NG_012047.2:g.84231A>G | |
| NG_012047.3:g.84238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1938A>G MANE Select | ENSP00000260947.4:p.Glu646= | |
| ENST00000421162.2:c.585A>G | ENSP00000392245.2:p.Glu195= | |
| ENST00000613192.2:c.*1A>G | ENSP00000483275.2:n.*1A>G | |
| ENST00000613374.5:c.528A>G | ENSP00000484464.1:p.Glu176= | |
| ENST00000613706.5:c.1530A>G | ENSP00000484976.2:p.Glu510= | |
| ENST00000617164.5:c.1881A>G | ENSP00000480470.1:p.Glu627= | |
| ENST00000619009.5:c.399A>G | ENSP00000482293.1:p.Glu133= | |
| ENST00000650978.1:c.3313A>G | ||
| ENST00000260947.8:c.1938A>G | ENSP00000260947.4:p.Glu646= | |
| ENST00000421162.1:c.585A>G | ENSP00000392245.1:p.Glu195= | |
| ENST00000432456.5:c.35A>G | ||
| ENST00000455743.5:c.*1558A>G | ENSP00000412186.1:n.*1558A>G | |
| ENST00000471590.5:n.273A>G | ||
| ENST00000613192.1:c.108A>G | ENSP00000483275.1:p.Glu36= | |
| ENST00000613374.4:c.528A>G | ENSP00000484464.1:p.Glu176= | |
| ENST00000613706.4:c.585A>G | ENSP00000484976.1:p.Glu195= | |
| ENST00000617164.4:c.1881A>G | ENSP00000480470.1:p.Glu627= | |
| ENST00000619009.4:c.399A>G | ENSP00000482293.1:p.Glu133= | |
| ENST00000620057.4:c.*604A>G | ENSP00000481988.1:n.*604A>G | |
| NM_000465.3:c.1938A>G | NP_000456.2:p.Glu646= | |
| NM_001282543.1:c.1881A>G | NP_001269472.1:p.Glu627= | |
| NM_001282545.1:c.585A>G | NP_001269474.1:p.Glu195= | |
| NM_001282548.1:c.528A>G | NP_001269477.1:p.Glu176= | |
| NM_001282549.1:c.399A>G | NP_001269478.1:p.Glu133= | |
| NR_104212.1:n.1931A>G | ||
| NR_104215.1:n.1874A>G | ||
| NR_104216.1:n.1130A>G | ||
| XM_011511567.1:c.1884A>G | XP_011509869.1:p.Glu628= | |
| XM_017004613.1:c.2037A>G | XP_016860102.1:p.Glu679= | |
| XR_002959322.1:n.2128A>G | ||
| NM_000465.4:c.1938A>G MANE Select | NP_000456.2:p.Glu646= | |
| NM_001282543.2:c.1881A>G | NP_001269472.1:p.Glu627= | |
| NM_001282545.2:c.585A>G | NP_001269474.1:p.Glu195= | |
| NM_001282548.2:c.528A>G | NP_001269477.1:p.Glu176= | |
| NM_001282549.2:c.399A>G | NP_001269478.1:p.Glu133= | |
| NR_104212.2:n.1903A>G | ||
| NR_104215.2:n.1846A>G | ||
| NR_104216.2:n.1102A>G |