Canonical Allele Identifier: CA335071192

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs781017447
• gnomAD v3: X-124346371-C-T
• gnomAD v4: X-124346371-C-T
• MyVariant Identifiers: chrX:g.123480221C>T (hg19) ; chrX:g.124346371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346371C>T , CM000685.2:g.124346371C>T	GRCh38
NC_000023.10:g.123480221C>T , CM000685.1:g.123480221C>T	GRCh37
NC_000023.9:g.123307902C>T	NCBI36
NG_007464.1:g.5072C>T , LRG_106:g.5072C>T
NG_033796.2:g.390812C>T , LRG_782:g.390812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19390C>T (SH2D1A)
ENST00000698113.1:c.-272C>T (SH2D1A)	ENSP00000513571.1:n.-272C>T
ENST00000698114.1:n.1C>T (SH2D1A)
ENST00000371139.8:c.-272C>T (SH2D1A)	ENSP00000360181.4:n.-272C>T
ENST00000469481.1:n.454-65451C>T (STAG2)
ENST00000635645.1:n.499-19390C>T (SH2D1A)
NM_001114937.2:c.-272C>T (SH2D1A)	NP_001108409.1:n.-272C>T
NM_002351.4:c.-272C>T , LRG_106t1:c.-272C>T (SH2D1A)	NP_002342.1:n.-272C>T