Canonical Allele Identifier: CA335071124

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs779311064
• gnomAD v3: X-124346242-T-C
• gnomAD v4: X-124346242-T-C
• MyVariant Identifiers: chrX:g.123480092T>C (hg19) ; chrX:g.124346242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346242T>C , CM000685.2:g.124346242T>C	GRCh38
NC_000023.10:g.123480092T>C , CM000685.1:g.123480092T>C	GRCh37
NC_000023.9:g.123307773T>C	NCBI36
NG_007464.1:g.4943T>C , LRG_106:g.4943T>C
NG_033796.2:g.390683T>C , LRG_782:g.390683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19519T>C (SH2D1A)
ENST00000698113.1:c.-401T>C (SH2D1A)	ENSP00000513571.1:n.-401T>C
ENST00000469481.1:n.454-65580T>C (STAG2)
ENST00000635645.1:n.499-19519T>C (SH2D1A)