Canonical Allele Identifier: CA10654244

Gene: SH2D1A STAG2

Linked Data

• ClinVar Variation Id: 367868
• ClinVar RCV Id: RCV000274348
• dbSNP Id: rs190166840
• gnomAD v2: X-123480246-G-A
• gnomAD v3: X-124346396-G-A
• gnomAD v4: X-124346396-G-A
• MyVariant Identifiers: chrX:g.123480246G>A (hg19) ; chrX:g.124346396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346396G>A , CM000685.2:g.124346396G>A	GRCh38
NC_000023.10:g.123480246G>A , CM000685.1:g.123480246G>A	GRCh37
NC_000023.9:g.123307927G>A	NCBI36
NG_007464.1:g.5097G>A , LRG_106:g.5097G>A
NG_033796.2:g.390837G>A , LRG_782:g.390837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647259.2:c.-247G>A (SH2D1A)	ENSP00000494582.1:n.-247G>A
ENST00000698112.1:n.499-19365G>A (SH2D1A)
ENST00000698113.1:c.-247G>A (SH2D1A)	ENSP00000513571.1:n.-247G>A
ENST00000698114.1:n.26G>A (SH2D1A)
ENST00000647259.1:c.-247G>A (SH2D1A)	ENSP00000494582.1:n.-247G>A
ENST00000371139.8:c.-247G>A (SH2D1A)	ENSP00000360181.4:n.-247G>A
ENST00000469481.1:n.454-65426G>A (STAG2)
ENST00000635645.1:n.499-19365G>A (SH2D1A)
NM_001114937.2:c.-247G>A (SH2D1A)	NP_001108409.1:n.-247G>A
NM_002351.4:c.-247G>A , LRG_106t1:c.-247G>A (SH2D1A)	NP_002342.1:n.-247G>A