Linked Data
ClinVar Variation Id:
1283992
ClinVar RCV Id:
RCV001698611
dbSNP Id:
rs7357894
gnomAD v2:
X-123479999-G-A
gnomAD v3:
X-124346149-G-A
gnomAD v4:
X-124346149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346149G>A , CM000685.2:g.124346149G>A | GRCh38 |
| NC_000023.10:g.123479999G>A , CM000685.1:g.123479999G>A | GRCh37 |
| NC_000023.9:g.123307680G>A | NCBI36 |
| NG_007464.1:g.4850G>A , LRG_106:g.4850G>A | |
| NG_033796.2:g.390590G>A , LRG_782:g.390590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19612G>A (SH2D1A) | ||
| ENST00000698113.1:c.-494G>A (SH2D1A) | ENSP00000513571.1:n.-494G>A | |
| ENST00000469481.1:n.454-65673G>A (STAG2) | ||
| ENST00000635645.1:n.499-19612G>A (SH2D1A) |