Linked Data
ClinVar Variation Id:
1144920
dbSNP Id:
rs1553612535
MyVariant Identifiers:
chr2:g.215595218G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730494G>A , CM000664.2:g.214730494G>A | GRCh38 |
| NC_000002.11:g.215595218G>A , CM000664.1:g.215595218G>A | GRCh37 |
| NC_000002.10:g.215303463G>A | NCBI36 |
| NG_012047.2:g.84211C>T | |
| NG_012047.3:g.84218C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1918C>T MANE Select | ENSP00000260947.4:p.Leu640= | |
| ENST00000421162.2:c.565C>T | ENSP00000392245.2:p.Leu189= | |
| ENST00000613192.2:c.173C>T | ENSP00000483275.2:p.Ser58Phe | |
| ENST00000613374.5:c.508C>T | ENSP00000484464.1:p.Leu170= | |
| ENST00000613706.5:c.1510C>T | ENSP00000484976.2:p.Leu504= | |
| ENST00000617164.5:c.1861C>T | ENSP00000480470.1:p.Leu621= | |
| ENST00000619009.5:c.379C>T | ENSP00000482293.1:p.Leu127= | |
| ENST00000650978.1:c.3293C>T | ||
| ENST00000260947.8:c.1918C>T | ENSP00000260947.4:p.Leu640= | |
| ENST00000421162.1:c.565C>T | ENSP00000392245.1:p.Leu189= | |
| ENST00000432456.5:c.15C>T | ||
| ENST00000455743.5:c.*1538C>T | ENSP00000412186.1:n.*1538C>T | |
| ENST00000471590.5:n.253C>T | ||
| ENST00000613192.1:c.88C>T | ENSP00000483275.1:p.Leu30= | |
| ENST00000613374.4:c.508C>T | ENSP00000484464.1:p.Leu170= | |
| ENST00000613706.4:c.565C>T | ENSP00000484976.1:p.Leu189= | |
| ENST00000617164.4:c.1861C>T | ENSP00000480470.1:p.Leu621= | |
| ENST00000619009.4:c.379C>T | ENSP00000482293.1:p.Leu127= | |
| ENST00000620057.4:c.*584C>T | ENSP00000481988.1:n.*584C>T | |
| NM_000465.3:c.1918C>T | NP_000456.2:p.Leu640= | |
| NM_001282543.1:c.1861C>T | NP_001269472.1:p.Leu621= | |
| NM_001282545.1:c.565C>T | NP_001269474.1:p.Leu189= | |
| NM_001282548.1:c.508C>T | NP_001269477.1:p.Leu170= | |
| NM_001282549.1:c.379C>T | NP_001269478.1:p.Leu127= | |
| NR_104212.1:n.1911C>T | ||
| NR_104215.1:n.1854C>T | ||
| NR_104216.1:n.1110C>T | ||
| XM_011511567.1:c.1864C>T | XP_011509869.1:p.Leu622= | |
| XM_017004613.1:c.2017C>T | XP_016860102.1:p.Leu673= | |
| XR_002959322.1:n.2108C>T | ||
| NM_000465.4:c.1918C>T MANE Select | NP_000456.2:p.Leu640= | |
| NM_001282543.2:c.1861C>T | NP_001269472.1:p.Leu621= | |
| NM_001282545.2:c.565C>T | NP_001269474.1:p.Leu189= | |
| NM_001282548.2:c.508C>T | NP_001269477.1:p.Leu170= | |
| NM_001282549.2:c.379C>T | NP_001269478.1:p.Leu127= | |
| NR_104212.2:n.1883C>T | ||
| NR_104215.2:n.1826C>T | ||
| NR_104216.2:n.1082C>T |