Canonical Allele Identifier: CA2694635444

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346415-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346415G>T , CM000685.2:g.124346415G>T	GRCh38
NC_000023.10:g.123480265G>T , CM000685.1:g.123480265G>T	GRCh37
NC_000023.9:g.123307946G>T	NCBI36
NG_007464.1:g.5116G>T , LRG_106:g.5116G>T
NG_033796.2:g.390856G>T , LRG_782:g.390856G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647259.2:c.-228G>T (SH2D1A)	ENSP00000494582.1:n.-228G>T
ENST00000698112.1:n.499-19346G>T (SH2D1A)
ENST00000698113.1:c.-228G>T (SH2D1A)	ENSP00000513571.1:n.-228G>T
ENST00000698114.1:n.45G>T (SH2D1A)
ENST00000698115.1:n.1G>T (SH2D1A)
ENST00000647259.1:c.-228G>T (SH2D1A)	ENSP00000494582.1:n.-228G>T
ENST00000371139.8:c.-228G>T (SH2D1A)	ENSP00000360181.4:n.-228G>T
ENST00000469481.1:n.454-65407G>T (STAG2)
ENST00000635645.1:n.499-19346G>T (SH2D1A)
NM_001114937.2:c.-228G>T (SH2D1A)	NP_001108409.1:n.-228G>T
NM_002351.4:c.-228G>T , LRG_106t1:c.-228G>T (SH2D1A)	NP_002342.1:n.-228G>T