Linked Data
ClinVar Variation Id:
2839435
ClinVar RCV Id:
RCV003623036
dbSNP Id:
rs2059993707
gnomAD v3:
X-124346738-G-A
gnomAD v4:
X-124346738-G-A
MyVariant Identifiers:
chrX:g.123480588G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346738G>A , CM000685.2:g.124346738G>A | GRCh38 |
| NC_000023.10:g.123480588G>A , CM000685.1:g.123480588G>A | GRCh37 |
| NC_000023.9:g.123308269G>A | NCBI36 |
| NG_007464.1:g.5439G>A , LRG_106:g.5439G>A | |
| NG_033796.2:g.391179G>A , LRG_782:g.391179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.96G>A (SH2D1A) | ENSP00000353126.4:p.Arg32= | |
| ENST00000647259.2:c.96G>A (SH2D1A) | ENSP00000494582.1:p.Arg32= | |
| ENST00000698112.1:n.499-19023G>A (SH2D1A) | ||
| ENST00000698113.1:c.96G>A (SH2D1A) | ENSP00000513571.1:p.Arg32= | |
| ENST00000698114.1:n.116+252G>A (SH2D1A) | ||
| ENST00000698115.1:n.72+252G>A (SH2D1A) | ||
| ENST00000698116.1:c.96G>A (SH2D1A) | ENSP00000513572.1:p.Arg32= | |
| ENST00000698117.1:c.96G>A (SH2D1A) | ENSP00000513573.1:p.Arg32= | |
| ENST00000698118.1:c.96G>A (SH2D1A) | ENSP00000513574.1:p.Arg32= | |
| ENST00000371139.9:c.96G>A (SH2D1A) MANE Select | ENSP00000360181.5:p.Arg32= | |
| ENST00000647259.1:c.96G>A (SH2D1A) | ENSP00000494582.1:p.Arg32= | |
| ENST00000360027.4:c.96G>A (SH2D1A) | ENSP00000353126.4:p.Arg32= | |
| ENST00000371139.8:c.96G>A (SH2D1A) | ENSP00000360181.4:p.Arg32= | |
| ENST00000469481.1:n.454-65084G>A (STAG2) | ||
| ENST00000477673.2:c.96G>A (SH2D1A) | ENSP00000477094.1:p.Arg32= | |
| ENST00000491950.5:n.150G>A (SH2D1A) | ||
| ENST00000494073.5:n.150G>A (SH2D1A) | ||
| ENST00000635645.1:n.499-19023G>A (SH2D1A) | ||
| NM_001114937.2:c.96G>A (SH2D1A) | NP_001108409.1:p.Arg32= | |
| NM_002351.4:c.96G>A , LRG_106t1:c.96G>A (SH2D1A) | NP_002342.1:p.Arg32= | |
| NM_002351.5:c.96G>A (SH2D1A) MANE Select | NP_002342.1:p.Arg32= | |
| NM_001114937.3:c.96G>A (SH2D1A) | NP_001108409.1:p.Arg32= |