Linked Data
ClinVar Variation Id:
367873
dbSNP Id:
rs199706936
ExAC:
X:123504173 A / G
gnomAD v2:
X-123504173-A-G
gnomAD v3:
X-124370323-A-G
gnomAD v4:
X-124370323-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124370323A>G , CM000685.2:g.124370323A>G | GRCh38 |
| NC_000023.10:g.123504173A>G , CM000685.1:g.123504173A>G | GRCh37 |
| NC_000023.9:g.123331854A>G | NCBI36 |
| NG_007464.1:g.29024A>G , LRG_106:g.29024A>G | |
| NG_033796.2:g.414764A>G , LRG_782:g.414764A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.337+12A>G (SH2D1A) | ENSP00000353126.4:n.337+12A>G | |
| ENST00000647259.2:c.*184+3A>G (SH2D1A) | ENSP00000494582.1:n.*184+3A>G | |
| ENST00000698112.1:n.652+3A>G (SH2D1A) | ||
| ENST00000698113.1:c.346+3A>G (SH2D1A) | ENSP00000513571.1:n.346+3A>G | |
| ENST00000698114.1:n.206+3A>G (SH2D1A) | ||
| ENST00000698115.1:n.281+3A>G (SH2D1A) | ||
| ENST00000698116.1:c.346+3A>G (SH2D1A) | ENSP00000513572.1:n.346+3A>G | |
| ENST00000698117.1:c.*60+3A>G (SH2D1A) | ENSP00000513573.1:n.*60+3A>G | |
| ENST00000698118.1:c.346+3A>G (SH2D1A) | ENSP00000513574.1:n.346+3A>G | |
| ENST00000698119.1:n.645+3A>G (SH2D1A) | ||
| ENST00000698120.1:n.183+3A>G (SH2D1A) | ||
| ENST00000371139.9:c.346+3A>G (SH2D1A) MANE Select | ENSP00000360181.5:n.346+3A>G | |
| ENST00000647259.1:c.*184+3A>G (SH2D1A) | ENSP00000494582.1:n.*184+3A>G | |
| ENST00000360027.4:c.337+12A>G (SH2D1A) | ENSP00000353126.4:n.337+12A>G | |
| ENST00000371139.8:c.346+3A>G (SH2D1A) | ENSP00000360181.4:n.346+3A>G | |
| ENST00000469481.1:n.454-41499A>G (STAG2) | ||
| ENST00000477673.2:c.*38+3A>G (SH2D1A) | ENSP00000477094.1:n.*38+3A>G | |
| ENST00000491950.5:n.336+3A>G (SH2D1A) | ||
| ENST00000494073.5:n.281+3A>G (SH2D1A) | ||
| ENST00000635645.1:n.707+3A>G (SH2D1A) | ||
| NM_001114937.2:c.337+12A>G (SH2D1A) | NP_001108409.1:n.337+12A>G | |
| NM_002351.4:c.346+3A>G , LRG_106t1:c.346+3A>G (SH2D1A) | NP_002342.1:n.346+3A>G | |
| NM_002351.5:c.346+3A>G (SH2D1A) MANE Select | NP_002342.1:n.346+3A>G | |
| NM_001114937.3:c.337+12A>G (SH2D1A) | NP_001108409.1:n.337+12A>G |