Canonical Allele Identifier: CA2694635443

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346413-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346413T>C , CM000685.2:g.124346413T>C	GRCh38
NC_000023.10:g.123480263T>C , CM000685.1:g.123480263T>C	GRCh37
NC_000023.9:g.123307944T>C	NCBI36
NG_007464.1:g.5114T>C , LRG_106:g.5114T>C
NG_033796.2:g.390854T>C , LRG_782:g.390854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647259.2:c.-230T>C (SH2D1A)	ENSP00000494582.1:n.-230T>C
ENST00000698112.1:n.499-19348T>C (SH2D1A)
ENST00000698113.1:c.-230T>C (SH2D1A)	ENSP00000513571.1:n.-230T>C
ENST00000698114.1:n.43T>C (SH2D1A)
ENST00000647259.1:c.-230T>C (SH2D1A)	ENSP00000494582.1:n.-230T>C
ENST00000371139.8:c.-230T>C (SH2D1A)	ENSP00000360181.4:n.-230T>C
ENST00000469481.1:n.454-65409T>C (STAG2)
ENST00000635645.1:n.499-19348T>C (SH2D1A)
NM_001114937.2:c.-230T>C (SH2D1A)	NP_001108409.1:n.-230T>C
NM_002351.4:c.-230T>C , LRG_106t1:c.-230T>C (SH2D1A)	NP_002342.1:n.-230T>C