Canonical Allele Identifier: CA2456206945

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs1190882728
• gnomAD v4: X-124346427-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346427C>A , CM000685.2:g.124346427C>A	GRCh38
NC_000023.10:g.123480277C>A , CM000685.1:g.123480277C>A	GRCh37
NC_000023.9:g.123307958C>A	NCBI36
NG_007464.1:g.5128C>A , LRG_106:g.5128C>A
NG_033796.2:g.390868C>A , LRG_782:g.390868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-216C>A (SH2D1A)	ENSP00000353126.4:n.-216C>A
ENST00000647259.2:c.-216C>A (SH2D1A)	ENSP00000494582.1:n.-216C>A
ENST00000698112.1:n.499-19334C>A (SH2D1A)
ENST00000698113.1:c.-216C>A (SH2D1A)	ENSP00000513571.1:n.-216C>A
ENST00000698114.1:n.57C>A (SH2D1A)
ENST00000698115.1:n.13C>A (SH2D1A)
ENST00000698116.1:c.-118C>A (SH2D1A)	ENSP00000513572.1:n.-118C>A
ENST00000647259.1:c.-216C>A (SH2D1A)	ENSP00000494582.1:n.-216C>A
ENST00000371139.8:c.-216C>A (SH2D1A)	ENSP00000360181.4:n.-216C>A
ENST00000469481.1:n.454-65395C>A (STAG2)
ENST00000635645.1:n.499-19334C>A (SH2D1A)
NM_001114937.2:c.-216C>A (SH2D1A)	NP_001108409.1:n.-216C>A
NM_002351.4:c.-216C>A , LRG_106t1:c.-216C>A (SH2D1A)	NP_002342.1:n.-216C>A