Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346275C>T , CM000685.2:g.124346275C>T | GRCh38 |
| NC_000023.10:g.123480125C>T , CM000685.1:g.123480125C>T | GRCh37 |
| NC_000023.9:g.123307806C>T | NCBI36 |
| NG_007464.1:g.4976C>T , LRG_106:g.4976C>T | |
| NG_033796.2:g.390716C>T , LRG_782:g.390716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19486C>T (SH2D1A) | ||
| ENST00000698113.1:c.-368C>T (SH2D1A) | ENSP00000513571.1:n.-368C>T | |
| ENST00000469481.1:n.454-65547C>T (STAG2) | ||
| ENST00000635645.1:n.499-19486C>T (SH2D1A) |