Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346287T>C , CM000685.2:g.124346287T>C | GRCh38 |
| NC_000023.10:g.123480137T>C , CM000685.1:g.123480137T>C | GRCh37 |
| NC_000023.9:g.123307818T>C | NCBI36 |
| NG_007464.1:g.4988T>C , LRG_106:g.4988T>C | |
| NG_033796.2:g.390728T>C , LRG_782:g.390728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19474T>C (SH2D1A) | ||
| ENST00000698113.1:c.-356T>C (SH2D1A) | ENSP00000513571.1:n.-356T>C | |
| ENST00000469481.1:n.454-65535T>C (STAG2) | ||
| ENST00000635645.1:n.499-19474T>C (SH2D1A) | ||
| NM_001114937.2:c.-356T>C (SH2D1A) | NP_001108409.1:n.-356T>C | |
| NM_002351.4:c.-356T>C , LRG_106t1:c.-356T>C (SH2D1A) | NP_002342.1:n.-356T>C |