Canonical Allele Identifier: CA2694635501

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346524-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346530dup , CM000685.2:g.124346530dup	GRCh38
NC_000023.10:g.123480380dup , CM000685.1:g.123480380dup	GRCh37
NC_000023.9:g.123308061dup	NCBI36
NG_007464.1:g.5231dup , LRG_106:g.5231dup
NG_033796.2:g.390971dup , LRG_782:g.390971dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-113dup (SH2D1A)	ENSP00000353126.4:n.-113dup
ENST00000647259.2:c.-113dup (SH2D1A)	ENSP00000494582.1:n.-113dup
ENST00000698112.1:n.499-19231dup (SH2D1A)
ENST00000698113.1:c.-113dup (SH2D1A)	ENSP00000513571.1:n.-113dup
ENST00000698114.1:n.116+44dup (SH2D1A)
ENST00000698115.1:n.72+44dup (SH2D1A)
ENST00000698116.1:c.-59+44dup (SH2D1A)	ENSP00000513572.1:n.-59+44dup
ENST00000647259.1:c.-113dup (SH2D1A)	ENSP00000494582.1:n.-113dup
ENST00000360027.4:c.-113dup (SH2D1A)	ENSP00000353126.4:n.-113dup
ENST00000371139.8:c.-113dup (SH2D1A)	ENSP00000360181.4:n.-113dup
ENST00000469481.1:n.454-65292dup (STAG2)
ENST00000635645.1:n.499-19231dup (SH2D1A)
NM_001114937.2:c.-113dup (SH2D1A)	NP_001108409.1:n.-113dup
NM_002351.4:c.-113dup , LRG_106t1:c.-113dup (SH2D1A)	NP_002342.1:n.-113dup