Linked Data
ClinVar Variation Id:
10898
dbSNP Id:
rs111033623
gnomAD v4:
X-124365786-C-T
COSMIC:
COSM4725533
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124365786C>T , CM000685.2:g.124365786C>T | GRCh38 |
| NC_000023.10:g.123499636C>T , CM000685.1:g.123499636C>T | GRCh37 |
| NC_000023.9:g.123327317C>T | NCBI36 |
| NG_007464.1:g.24487C>T , LRG_106:g.24487C>T | |
| NG_033796.2:g.410227C>T , LRG_782:g.410227C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360027.5:c.163C>T (SH2D1A) | ENSP00000353126.4:p.Arg55Ter | |
| ENST00000647259.2:c.163C>T (SH2D1A) | ENSP00000494582.1:p.Arg55Ter | |
| ENST00000698112.1:n.524C>T (SH2D1A) | ||
| ENST00000698113.1:c.163C>T (SH2D1A) | ENSP00000513571.1:p.Arg55Ter | |
| ENST00000698114.1:n.117-4445C>T (SH2D1A) | ||
| ENST00000698115.1:n.98C>T (SH2D1A) | ||
| ENST00000698116.1:c.163C>T (SH2D1A) | ENSP00000513572.1:p.Arg55Ter | |
| ENST00000698117.1:c.163C>T (SH2D1A) | ENSP00000513573.1:p.Arg55Ter | |
| ENST00000698118.1:c.163C>T (SH2D1A) | ENSP00000513574.1:p.Arg55Ter | |
| ENST00000698119.1:n.462C>T (SH2D1A) | ||
| ENST00000371139.9:c.163C>T (SH2D1A) MANE Select | ENSP00000360181.5:p.Arg55Ter | |
| ENST00000647259.1:c.163C>T (SH2D1A) | ENSP00000494582.1:p.Arg55Ter | |
| ENST00000360027.4:c.163C>T (SH2D1A) | ENSP00000353126.4:p.Arg55Ter | |
| ENST00000371139.8:c.163C>T (SH2D1A) | ENSP00000360181.4:p.Arg55Ter | |
| ENST00000469481.1:n.454-46036C>T (STAG2) | ||
| ENST00000477673.2:c.141C>T (SH2D1A) | ENSP00000477094.1:p.Thr47= | |
| ENST00000491950.5:n.192-4390C>T (SH2D1A) | ||
| ENST00000494073.5:n.192-4445C>T (SH2D1A) | ||
| ENST00000635645.1:n.524C>T (SH2D1A) | ||
| NM_001114937.2:c.163C>T (SH2D1A) | NP_001108409.1:p.Arg55Ter | |
| NM_002351.4:c.163C>T , LRG_106t1:c.163C>T (SH2D1A) | NP_002342.1:p.Arg55Ter | |
| NM_002351.5:c.163C>T (SH2D1A) MANE Select | NP_002342.1:p.Arg55Ter | |
| NM_001114937.3:c.163C>T (SH2D1A) | NP_001108409.1:p.Arg55Ter |