Canonical Allele Identifier: CA335071246

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs372013111
• MyVariant Identifiers: chrX:g.123480310A>T (hg19) ; chrX:g.124346460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346460A>T , CM000685.2:g.124346460A>T	GRCh38
NC_000023.10:g.123480310A>T , CM000685.1:g.123480310A>T	GRCh37
NC_000023.9:g.123307991A>T	NCBI36
NG_007464.1:g.5161A>T , LRG_106:g.5161A>T
NG_033796.2:g.390901A>T , LRG_782:g.390901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-183A>T (SH2D1A)	ENSP00000353126.4:n.-183A>T
ENST00000647259.2:c.-183A>T (SH2D1A)	ENSP00000494582.1:n.-183A>T
ENST00000698112.1:n.499-19301A>T (SH2D1A)
ENST00000698113.1:c.-183A>T (SH2D1A)	ENSP00000513571.1:n.-183A>T
ENST00000698114.1:n.90A>T (SH2D1A)
ENST00000698115.1:n.46A>T (SH2D1A)
ENST00000698116.1:c.-85A>T (SH2D1A)	ENSP00000513572.1:n.-85A>T
ENST00000647259.1:c.-183A>T (SH2D1A)	ENSP00000494582.1:n.-183A>T
ENST00000371139.8:c.-183A>T (SH2D1A)	ENSP00000360181.4:n.-183A>T
ENST00000469481.1:n.454-65362A>T (STAG2)
ENST00000635645.1:n.499-19301A>T (SH2D1A)
NM_001114937.2:c.-183A>T (SH2D1A)	NP_001108409.1:n.-183A>T
NM_002351.4:c.-183A>T , LRG_106t1:c.-183A>T (SH2D1A)	NP_002342.1:n.-183A>T