Revel Score:
ENST00000371139 (MANE Select)
0.863
ENST00000360027
0.863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124370177C>T , CM000685.2:g.124370177C>T | GRCh38 |
| NC_000023.10:g.123504027C>T , CM000685.1:g.123504027C>T | GRCh37 |
| NC_000023.9:g.123331708C>T | NCBI36 |
| NG_007464.1:g.28878C>T , LRG_106:g.28878C>T | |
| NG_033796.2:g.414618C>T , LRG_782:g.414618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.203C>T (SH2D1A) | ENSP00000353126.4:p.Thr68Ile | |
| ENST00000647259.2:c.*41C>T (SH2D1A) | ENSP00000494582.1:n.*41C>T | |
| ENST00000698112.1:n.563-54C>T (SH2D1A) | ||
| ENST00000698113.1:c.203C>T (SH2D1A) | ENSP00000513571.1:p.Thr68Ile | |
| ENST00000698114.1:n.117-54C>T (SH2D1A) | ||
| ENST00000698115.1:n.138C>T (SH2D1A) | ||
| ENST00000698116.1:c.203C>T (SH2D1A) | ENSP00000513572.1:p.Thr68Ile | |
| ENST00000698117.1:c.202-54C>T (SH2D1A) | ENSP00000513573.1:n.202-54C>T | |
| ENST00000698118.1:c.203C>T (SH2D1A) | ENSP00000513574.1:p.Thr68Ile | |
| ENST00000698119.1:n.502C>T (SH2D1A) | ||
| ENST00000698120.1:n.93+34C>T (SH2D1A) | ||
| ENST00000371139.9:c.203C>T (SH2D1A) MANE Select | ENSP00000360181.5:p.Thr68Ile | |
| ENST00000647259.1:c.*41C>T (SH2D1A) | ENSP00000494582.1:n.*41C>T | |
| ENST00000360027.4:c.203C>T (SH2D1A) | ENSP00000353126.4:p.Thr68Ile | |
| ENST00000371139.8:c.203C>T (SH2D1A) | ENSP00000360181.4:p.Thr68Ile | |
| ENST00000469481.1:n.454-41645C>T (STAG2) | ||
| ENST00000477673.2:c.180-54C>T (SH2D1A) | ENSP00000477094.1:n.180-54C>T | |
| ENST00000491950.5:n.193C>T (SH2D1A) | ||
| ENST00000494073.5:n.192-54C>T (SH2D1A) | ||
| ENST00000635645.1:n.564C>T (SH2D1A) | ||
| NM_001114937.2:c.203C>T (SH2D1A) | NP_001108409.1:p.Thr68Ile | |
| NM_002351.4:c.203C>T , LRG_106t1:c.203C>T (SH2D1A) | NP_002342.1:p.Thr68Ile | |
| NM_002351.5:c.203C>T (SH2D1A) MANE Select | NP_002342.1:p.Thr68Ile | |
| NM_001114937.3:c.203C>T (SH2D1A) | NP_001108409.1:p.Thr68Ile |