Canonical Allele Identifier: CA2694635498

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346519-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346519T>C , CM000685.2:g.124346519T>C	GRCh38
NC_000023.10:g.123480369T>C , CM000685.1:g.123480369T>C	GRCh37
NC_000023.9:g.123308050T>C	NCBI36
NG_007464.1:g.5220T>C , LRG_106:g.5220T>C
NG_033796.2:g.390960T>C , LRG_782:g.390960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-124T>C (SH2D1A)	ENSP00000353126.4:n.-124T>C
ENST00000647259.2:c.-124T>C (SH2D1A)	ENSP00000494582.1:n.-124T>C
ENST00000698112.1:n.499-19242T>C (SH2D1A)
ENST00000698113.1:c.-124T>C (SH2D1A)	ENSP00000513571.1:n.-124T>C
ENST00000698114.1:n.116+33T>C (SH2D1A)
ENST00000698115.1:n.72+33T>C (SH2D1A)
ENST00000698116.1:c.-59+33T>C (SH2D1A)	ENSP00000513572.1:n.-59+33T>C
ENST00000647259.1:c.-124T>C (SH2D1A)	ENSP00000494582.1:n.-124T>C
ENST00000371139.8:c.-124T>C (SH2D1A)	ENSP00000360181.4:n.-124T>C
ENST00000469481.1:n.454-65303T>C (STAG2)
ENST00000635645.1:n.499-19242T>C (SH2D1A)
NM_001114937.2:c.-124T>C (SH2D1A)	NP_001108409.1:n.-124T>C
NM_002351.4:c.-124T>C , LRG_106t1:c.-124T>C (SH2D1A)	NP_002342.1:n.-124T>C