Linked Data
ClinVar Variation Id:
1952483
ClinVar RCV Id:
RCV002700002
MyVariant Identifiers:
chr2:g.215609837C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745113C>T , CM000664.2:g.214745113C>T | GRCh38 |
| NC_000002.11:g.215609837C>T , CM000664.1:g.215609837C>T | GRCh37 |
| NC_000002.10:g.215318082C>T | NCBI36 |
| NG_012047.2:g.69592G>A | |
| NG_012047.3:g.69599G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1857G>A MANE Select | ENSP00000260947.4:p.Lys619= | |
| ENST00000421162.2:c.504G>A | ENSP00000392245.2:p.Lys168= | |
| ENST00000613192.2:c.159-14605G>A | ENSP00000483275.2:n.159-14605G>A | |
| ENST00000613374.5:c.447G>A | ENSP00000484464.1:p.Lys149= | |
| ENST00000613706.5:c.1449G>A | ENSP00000484976.2:p.Lys483= | |
| ENST00000617164.5:c.1800G>A | ENSP00000480470.1:p.Lys600= | |
| ENST00000619009.5:c.365-14605G>A | ENSP00000482293.1:n.365-14605G>A | |
| ENST00000650978.1:c.3232G>A | ||
| ENST00000260947.8:c.1857G>A | ENSP00000260947.4:p.Lys619= | |
| ENST00000421162.1:c.504G>A | ENSP00000392245.1:p.Lys168= | |
| ENST00000455743.5:c.*1477G>A | ENSP00000412186.1:n.*1477G>A | |
| ENST00000613192.1:c.74-14605G>A | ENSP00000483275.1:n.74-14605G>A | |
| ENST00000613374.4:c.447G>A | ENSP00000484464.1:p.Lys149= | |
| ENST00000613706.4:c.504G>A | ENSP00000484976.1:p.Lys168= | |
| ENST00000617164.4:c.1800G>A | ENSP00000480470.1:p.Lys600= | |
| ENST00000619009.4:c.365-14605G>A | ENSP00000482293.1:n.365-14605G>A | |
| ENST00000620057.4:c.*523G>A | ENSP00000481988.1:n.*523G>A | |
| NM_000465.3:c.1857G>A | NP_000456.2:p.Lys619= | |
| NM_001282543.1:c.1800G>A | NP_001269472.1:p.Lys600= | |
| NM_001282545.1:c.504G>A | NP_001269474.1:p.Lys168= | |
| NM_001282548.1:c.447G>A | NP_001269477.1:p.Lys149= | |
| NM_001282549.1:c.365-14605G>A | NP_001269478.1:n.365-14605G>A | |
| NR_104212.1:n.1850G>A | ||
| NR_104215.1:n.1793G>A | ||
| NR_104216.1:n.1049G>A | ||
| XM_011511567.1:c.1803G>A | XP_011509869.1:p.Lys601= | |
| XM_011511568.1:c.1857G>A | XP_011509870.1:p.Lys619= | |
| XM_017004613.1:c.1956G>A | XP_016860102.1:p.Lys652= | |
| XM_017004614.1:c.1956G>A | XP_016860103.1:p.Lys652= | |
| XR_002959322.1:n.2047G>A | ||
| NM_000465.4:c.1857G>A MANE Select | NP_000456.2:p.Lys619= | |
| NM_001282543.2:c.1800G>A | NP_001269472.1:p.Lys600= | |
| NM_001282545.2:c.504G>A | NP_001269474.1:p.Lys168= | |
| NM_001282548.2:c.447G>A | NP_001269477.1:p.Lys149= | |
| NM_001282549.2:c.365-14605G>A | NP_001269478.1:n.365-14605G>A | |
| NR_104212.2:n.1822G>A | ||
| NR_104215.2:n.1765G>A | ||
| NR_104216.2:n.1021G>A |