Canonical Allele Identifier: CA871054679

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs1248706917
• gnomAD v3: X-124346310-G-C
• gnomAD v4: X-124346310-G-C
• MyVariant Identifiers: chrX:g.123480160G>C (hg19) ; chrX:g.124346310G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346310G>C , CM000685.2:g.124346310G>C	GRCh38
NC_000023.10:g.123480160G>C , CM000685.1:g.123480160G>C	GRCh37
NC_000023.9:g.123307841G>C	NCBI36
NG_007464.1:g.5011G>C , LRG_106:g.5011G>C
NG_033796.2:g.390751G>C , LRG_782:g.390751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19451G>C (SH2D1A)
ENST00000698113.1:c.-333G>C (SH2D1A)	ENSP00000513571.1:n.-333G>C
ENST00000469481.1:n.454-65512G>C (STAG2)
ENST00000635645.1:n.499-19451G>C (SH2D1A)
NM_001114937.2:c.-333G>C (SH2D1A)	NP_001108409.1:n.-333G>C
NM_002351.4:c.-333G>C , LRG_106t1:c.-333G>C (SH2D1A)	NP_002342.1:n.-333G>C