Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346247C>G , CM000685.2:g.124346247C>G | GRCh38 |
| NC_000023.10:g.123480097C>G , CM000685.1:g.123480097C>G | GRCh37 |
| NC_000023.9:g.123307778C>G | NCBI36 |
| NG_007464.1:g.4948C>G , LRG_106:g.4948C>G | |
| NG_033796.2:g.390688C>G , LRG_782:g.390688C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19514C>G (SH2D1A) | ||
| ENST00000698113.1:c.-396C>G (SH2D1A) | ENSP00000513571.1:n.-396C>G | |
| ENST00000469481.1:n.454-65575C>G (STAG2) | ||
| ENST00000635645.1:n.499-19514C>G (SH2D1A) |