Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346219C>G , CM000685.2:g.124346219C>G | GRCh38 |
| NC_000023.10:g.123480069C>G , CM000685.1:g.123480069C>G | GRCh37 |
| NC_000023.9:g.123307750C>G | NCBI36 |
| NG_007464.1:g.4920C>G , LRG_106:g.4920C>G | |
| NG_033796.2:g.390660C>G , LRG_782:g.390660C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19542C>G (SH2D1A) | ||
| ENST00000698113.1:c.-424C>G (SH2D1A) | ENSP00000513571.1:n.-424C>G | |
| ENST00000469481.1:n.454-65603C>G (STAG2) | ||
| ENST00000635645.1:n.499-19542C>G (SH2D1A) |