Canonical Allele Identifier: CA1136997637

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs2059992845
• gnomAD v3: X-124346553-T-A
• gnomAD v4: X-124346553-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346553T>A , CM000685.2:g.124346553T>A	GRCh38
NC_000023.10:g.123480403T>A , CM000685.1:g.123480403T>A	GRCh37
NC_000023.9:g.123308084T>A	NCBI36
NG_007464.1:g.5254T>A , LRG_106:g.5254T>A
NG_033796.2:g.390994T>A , LRG_782:g.390994T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360027.5:c.-90T>A (SH2D1A)	ENSP00000353126.4:n.-90T>A
ENST00000647259.2:c.-90T>A (SH2D1A)	ENSP00000494582.1:n.-90T>A
ENST00000698112.1:n.499-19208T>A (SH2D1A)
ENST00000698113.1:c.-90T>A (SH2D1A)	ENSP00000513571.1:n.-90T>A
ENST00000698114.1:n.116+67T>A (SH2D1A)
ENST00000698115.1:n.72+67T>A (SH2D1A)
ENST00000698116.1:c.-58-32T>A (SH2D1A)	ENSP00000513572.1:n.-58-32T>A
ENST00000698117.1:c.-90T>A (SH2D1A)	ENSP00000513573.1:n.-90T>A
ENST00000647259.1:c.-90T>A (SH2D1A)	ENSP00000494582.1:n.-90T>A
ENST00000360027.4:c.-90T>A (SH2D1A)	ENSP00000353126.4:n.-90T>A
ENST00000371139.8:c.-90T>A (SH2D1A)	ENSP00000360181.4:n.-90T>A
ENST00000469481.1:n.454-65269T>A (STAG2)
ENST00000635645.1:n.499-19208T>A (SH2D1A)
NM_001114937.2:c.-90T>A (SH2D1A)	NP_001108409.1:n.-90T>A
NM_002351.4:c.-90T>A , LRG_106t1:c.-90T>A (SH2D1A)	NP_002342.1:n.-90T>A