Canonical Allele Identifier: CA335071200

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs769518249
• gnomAD v3: X-124346385-T-C
• gnomAD v4: X-124346385-T-C
• MyVariant Identifiers: chrX:g.123480235T>C (hg19) ; chrX:g.124346385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346385T>C , CM000685.2:g.124346385T>C	GRCh38
NC_000023.10:g.123480235T>C , CM000685.1:g.123480235T>C	GRCh37
NC_000023.9:g.123307916T>C	NCBI36
NG_007464.1:g.5086T>C , LRG_106:g.5086T>C
NG_033796.2:g.390826T>C , LRG_782:g.390826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19376T>C (SH2D1A)
ENST00000698113.1:c.-258T>C (SH2D1A)	ENSP00000513571.1:n.-258T>C
ENST00000698114.1:n.15T>C (SH2D1A)
ENST00000371139.8:c.-258T>C (SH2D1A)	ENSP00000360181.4:n.-258T>C
ENST00000469481.1:n.454-65437T>C (STAG2)
ENST00000635645.1:n.499-19376T>C (SH2D1A)
NM_001114937.2:c.-258T>C (SH2D1A)	NP_001108409.1:n.-258T>C
NM_002351.4:c.-258T>C , LRG_106t1:c.-258T>C (SH2D1A)	NP_002342.1:n.-258T>C