Canonical Allele Identifier: CA644151144

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs1424698752
• gnomAD v2: X-123480395-A-G
• gnomAD v4: X-124346545-A-G
• MyVariant Identifiers: chrX:g.123480395A>G (hg19) ; chrX:g.124346545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346545A>G , CM000685.2:g.124346545A>G	GRCh38
NC_000023.10:g.123480395A>G , CM000685.1:g.123480395A>G	GRCh37
NC_000023.9:g.123308076A>G	NCBI36
NG_007464.1:g.5246A>G , LRG_106:g.5246A>G
NG_033796.2:g.390986A>G , LRG_782:g.390986A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360027.5:c.-98A>G (SH2D1A)	ENSP00000353126.4:n.-98A>G
ENST00000647259.2:c.-98A>G (SH2D1A)	ENSP00000494582.1:n.-98A>G
ENST00000698112.1:n.499-19216A>G (SH2D1A)
ENST00000698113.1:c.-98A>G (SH2D1A)	ENSP00000513571.1:n.-98A>G
ENST00000698114.1:n.116+59A>G (SH2D1A)
ENST00000698115.1:n.72+59A>G (SH2D1A)
ENST00000698116.1:c.-58-40A>G (SH2D1A)	ENSP00000513572.1:n.-58-40A>G
ENST00000698117.1:c.-98A>G (SH2D1A)	ENSP00000513573.1:n.-98A>G
ENST00000647259.1:c.-98A>G (SH2D1A)	ENSP00000494582.1:n.-98A>G
ENST00000360027.4:c.-98A>G (SH2D1A)	ENSP00000353126.4:n.-98A>G
ENST00000371139.8:c.-98A>G (SH2D1A)	ENSP00000360181.4:n.-98A>G
ENST00000469481.1:n.454-65277A>G (STAG2)
ENST00000635645.1:n.499-19216A>G (SH2D1A)
NM_001114937.2:c.-98A>G (SH2D1A)	NP_001108409.1:n.-98A>G
NM_002351.4:c.-98A>G , LRG_106t1:c.-98A>G (SH2D1A)	NP_002342.1:n.-98A>G