Canonical Allele Identifier: CA871054606

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs1226305163
• MyVariant Identifiers: chrX:g.123480013C>T (hg19) ; chrX:g.124346163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346163C>T , CM000685.2:g.124346163C>T	GRCh38
NC_000023.10:g.123480013C>T , CM000685.1:g.123480013C>T	GRCh37
NC_000023.9:g.123307694C>T	NCBI36
NG_007464.1:g.4864C>T , LRG_106:g.4864C>T
NG_033796.2:g.390604C>T , LRG_782:g.390604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19598C>T (SH2D1A)
ENST00000698113.1:c.-480C>T (SH2D1A)	ENSP00000513571.1:n.-480C>T
ENST00000469481.1:n.454-65659C>T (STAG2)
ENST00000635645.1:n.499-19598C>T (SH2D1A)