Canonical Allele Identifier: CA871054610

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs1341497109
• gnomAD v3: X-124346170-G-A
• gnomAD v4: X-124346170-G-A
• MyVariant Identifiers: chrX:g.123480020G>A (hg19) ; chrX:g.124346170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346170G>A , CM000685.2:g.124346170G>A	GRCh38
NC_000023.10:g.123480020G>A , CM000685.1:g.123480020G>A	GRCh37
NC_000023.9:g.123307701G>A	NCBI36
NG_007464.1:g.4871G>A , LRG_106:g.4871G>A
NG_033796.2:g.390611G>A , LRG_782:g.390611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19591G>A (SH2D1A)
ENST00000698113.1:c.-473G>A (SH2D1A)	ENSP00000513571.1:n.-473G>A
ENST00000469481.1:n.454-65652G>A (STAG2)
ENST00000635645.1:n.499-19591G>A (SH2D1A)