Canonical Allele Identifier: CA2694635505

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346532-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346532C>A , CM000685.2:g.124346532C>A	GRCh38
NC_000023.10:g.123480382C>A , CM000685.1:g.123480382C>A	GRCh37
NC_000023.9:g.123308063C>A	NCBI36
NG_007464.1:g.5233C>A , LRG_106:g.5233C>A
NG_033796.2:g.390973C>A , LRG_782:g.390973C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-111C>A (SH2D1A)	ENSP00000353126.4:n.-111C>A
ENST00000647259.2:c.-111C>A (SH2D1A)	ENSP00000494582.1:n.-111C>A
ENST00000698112.1:n.499-19229C>A (SH2D1A)
ENST00000698113.1:c.-111C>A (SH2D1A)	ENSP00000513571.1:n.-111C>A
ENST00000698114.1:n.116+46C>A (SH2D1A)
ENST00000698115.1:n.72+46C>A (SH2D1A)
ENST00000698116.1:c.-59+46C>A (SH2D1A)	ENSP00000513572.1:n.-59+46C>A
ENST00000647259.1:c.-111C>A (SH2D1A)	ENSP00000494582.1:n.-111C>A
ENST00000360027.4:c.-111C>A (SH2D1A)	ENSP00000353126.4:n.-111C>A
ENST00000371139.8:c.-111C>A (SH2D1A)	ENSP00000360181.4:n.-111C>A
ENST00000469481.1:n.454-65290C>A (STAG2)
ENST00000635645.1:n.499-19229C>A (SH2D1A)
NM_001114937.2:c.-111C>A (SH2D1A)	NP_001108409.1:n.-111C>A
NM_002351.4:c.-111C>A , LRG_106t1:c.-111C>A (SH2D1A)	NP_002342.1:n.-111C>A