Linked Data
ClinVar Variation Id:
1781716
ClinVar RCV Id:
RCV002415133
MyVariant Identifiers:
chr2:g.215609822A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745098A>T , CM000664.2:g.214745098A>T | GRCh38 |
| NC_000002.11:g.215609822A>T , CM000664.1:g.215609822A>T | GRCh37 |
| NC_000002.10:g.215318067A>T | NCBI36 |
| NG_012047.2:g.69607T>A | |
| NG_012047.3:g.69614T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1872T>A MANE Select | ENSP00000260947.4:p.Ile624= | |
| ENST00000421162.2:c.519T>A | ENSP00000392245.2:p.Ile173= | |
| ENST00000613192.2:c.159-14590T>A | ENSP00000483275.2:n.159-14590T>A | |
| ENST00000613374.5:c.462T>A | ENSP00000484464.1:p.Ile154= | |
| ENST00000613706.5:c.1464T>A | ENSP00000484976.2:p.Ile488= | |
| ENST00000617164.5:c.1815T>A | ENSP00000480470.1:p.Ile605= | |
| ENST00000619009.5:c.365-14590T>A | ENSP00000482293.1:n.365-14590T>A | |
| ENST00000650978.1:c.3247T>A | ||
| ENST00000260947.8:c.1872T>A | ENSP00000260947.4:p.Ile624= | |
| ENST00000421162.1:c.519T>A | ENSP00000392245.1:p.Ile173= | |
| ENST00000455743.5:c.*1492T>A | ENSP00000412186.1:n.*1492T>A | |
| ENST00000613192.1:c.74-14590T>A | ENSP00000483275.1:n.74-14590T>A | |
| ENST00000613374.4:c.462T>A | ENSP00000484464.1:p.Ile154= | |
| ENST00000613706.4:c.519T>A | ENSP00000484976.1:p.Ile173= | |
| ENST00000617164.4:c.1815T>A | ENSP00000480470.1:p.Ile605= | |
| ENST00000619009.4:c.365-14590T>A | ENSP00000482293.1:n.365-14590T>A | |
| ENST00000620057.4:c.*538T>A | ENSP00000481988.1:n.*538T>A | |
| NM_000465.3:c.1872T>A | NP_000456.2:p.Ile624= | |
| NM_001282543.1:c.1815T>A | NP_001269472.1:p.Ile605= | |
| NM_001282545.1:c.519T>A | NP_001269474.1:p.Ile173= | |
| NM_001282548.1:c.462T>A | NP_001269477.1:p.Ile154= | |
| NM_001282549.1:c.365-14590T>A | NP_001269478.1:n.365-14590T>A | |
| NR_104212.1:n.1865T>A | ||
| NR_104215.1:n.1808T>A | ||
| NR_104216.1:n.1064T>A | ||
| XM_011511567.1:c.1818T>A | XP_011509869.1:p.Ile606= | |
| XM_011511568.1:c.1872T>A | XP_011509870.1:p.Ile624= | |
| XM_017004613.1:c.1971T>A | XP_016860102.1:p.Ile657= | |
| XM_017004614.1:c.1971T>A | XP_016860103.1:p.Ile657= | |
| XR_002959322.1:n.2062T>A | ||
| NM_000465.4:c.1872T>A MANE Select | NP_000456.2:p.Ile624= | |
| NM_001282543.2:c.1815T>A | NP_001269472.1:p.Ile605= | |
| NM_001282545.2:c.519T>A | NP_001269474.1:p.Ile173= | |
| NM_001282548.2:c.462T>A | NP_001269477.1:p.Ile154= | |
| NM_001282549.2:c.365-14590T>A | NP_001269478.1:n.365-14590T>A | |
| NR_104212.2:n.1837T>A | ||
| NR_104215.2:n.1780T>A | ||
| NR_104216.2:n.1036T>A |