Canonical Allele Identifier: CA335071140

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs1003556859
• gnomAD v3: X-124346275-C-A
• gnomAD v4: X-124346275-C-A
• MyVariant Identifiers: chrX:g.123480125C>A (hg19) ; chrX:g.124346275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346275C>A , CM000685.2:g.124346275C>A	GRCh38
NC_000023.10:g.123480125C>A , CM000685.1:g.123480125C>A	GRCh37
NC_000023.9:g.123307806C>A	NCBI36
NG_007464.1:g.4976C>A , LRG_106:g.4976C>A
NG_033796.2:g.390716C>A , LRG_782:g.390716C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19486C>A (SH2D1A)
ENST00000698113.1:c.-368C>A (SH2D1A)	ENSP00000513571.1:n.-368C>A
ENST00000469481.1:n.454-65547C>A (STAG2)
ENST00000635645.1:n.499-19486C>A (SH2D1A)