Canonical Allele Identifier: CA871054711

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs1301124134
• gnomAD v4: X-124346349-C-G
• MyVariant Identifiers: chrX:g.123480199C>G (hg19) ; chrX:g.124346349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346349C>G , CM000685.2:g.124346349C>G	GRCh38
NC_000023.10:g.123480199C>G , CM000685.1:g.123480199C>G	GRCh37
NC_000023.9:g.123307880C>G	NCBI36
NG_007464.1:g.5050C>G , LRG_106:g.5050C>G
NG_033796.2:g.390790C>G , LRG_782:g.390790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19412C>G (SH2D1A)
ENST00000698113.1:c.-294C>G (SH2D1A)	ENSP00000513571.1:n.-294C>G
ENST00000371139.8:c.-294C>G (SH2D1A)	ENSP00000360181.4:n.-294C>G
ENST00000469481.1:n.454-65473C>G (STAG2)
ENST00000635645.1:n.499-19412C>G (SH2D1A)
NM_001114937.2:c.-294C>G (SH2D1A)	NP_001108409.1:n.-294C>G
NM_002351.4:c.-294C>G , LRG_106t1:c.-294C>G (SH2D1A)	NP_002342.1:n.-294C>G