Canonical Allele Identifier: CA2694635431

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346389-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346389T>G , CM000685.2:g.124346389T>G	GRCh38
NC_000023.10:g.123480239T>G , CM000685.1:g.123480239T>G	GRCh37
NC_000023.9:g.123307920T>G	NCBI36
NG_007464.1:g.5090T>G , LRG_106:g.5090T>G
NG_033796.2:g.390830T>G , LRG_782:g.390830T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19372T>G (SH2D1A)
ENST00000698113.1:c.-254T>G (SH2D1A)	ENSP00000513571.1:n.-254T>G
ENST00000698114.1:n.19T>G (SH2D1A)
ENST00000371139.8:c.-254T>G (SH2D1A)	ENSP00000360181.4:n.-254T>G
ENST00000469481.1:n.454-65433T>G (STAG2)
ENST00000635645.1:n.499-19372T>G (SH2D1A)
NM_001114937.2:c.-254T>G (SH2D1A)	NP_001108409.1:n.-254T>G
NM_002351.4:c.-254T>G , LRG_106t1:c.-254T>G (SH2D1A)	NP_002342.1:n.-254T>G