Canonical Allele Identifier: CA10651672

Gene: SH2D1A STAG2

Linked Data

• ClinVar Variation Id: 367870
• ClinVar RCV Id: RCV000365081
• dbSNP Id: rs142160401
• gnomAD v2: X-123480419-T-A
• gnomAD v3: X-124346569-T-A
• gnomAD v4: X-124346569-T-A
• MyVariant Identifiers: chrX:g.123480419T>A (hg19) ; chrX:g.124346569T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346569T>A , CM000685.2:g.124346569T>A	GRCh38
NC_000023.10:g.123480419T>A , CM000685.1:g.123480419T>A	GRCh37
NC_000023.9:g.123308100T>A	NCBI36
NG_007464.1:g.5270T>A , LRG_106:g.5270T>A
NG_033796.2:g.391010T>A , LRG_782:g.391010T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360027.5:c.-74T>A (SH2D1A)	ENSP00000353126.4:n.-74T>A
ENST00000647259.2:c.-74T>A (SH2D1A)	ENSP00000494582.1:n.-74T>A
ENST00000698112.1:n.499-19192T>A (SH2D1A)
ENST00000698113.1:c.-74T>A (SH2D1A)	ENSP00000513571.1:n.-74T>A
ENST00000698114.1:n.116+83T>A (SH2D1A)
ENST00000698115.1:n.72+83T>A (SH2D1A)
ENST00000698116.1:c.-58-16T>A (SH2D1A)	ENSP00000513572.1:n.-58-16T>A
ENST00000698117.1:c.-74T>A (SH2D1A)	ENSP00000513573.1:n.-74T>A
ENST00000371139.9:c.-74T>A (SH2D1A) MANE Select	ENSP00000360181.5:n.-74T>A
ENST00000647259.1:c.-74T>A (SH2D1A)	ENSP00000494582.1:n.-74T>A
ENST00000360027.4:c.-74T>A (SH2D1A)	ENSP00000353126.4:n.-74T>A
ENST00000371139.8:c.-74T>A (SH2D1A)	ENSP00000360181.4:n.-74T>A
ENST00000469481.1:n.454-65253T>A (STAG2)
ENST00000635645.1:n.499-19192T>A (SH2D1A)
NM_001114937.2:c.-74T>A (SH2D1A)	NP_001108409.1:n.-74T>A
NM_002351.4:c.-74T>A , LRG_106t1:c.-74T>A (SH2D1A)	NP_002342.1:n.-74T>A
NM_002351.5:c.-74T>A (SH2D1A) MANE Select	NP_002342.1:n.-74T>A
NM_001114937.3:c.-74T>A (SH2D1A)	NP_001108409.1:n.-74T>A