Canonical Allele Identifier: CA2694635456

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346440-TAAATTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346441_124346447del , CM000685.2:g.124346441_124346447del	GRCh38
NC_000023.10:g.123480291_123480297del , CM000685.1:g.123480291_123480297del	GRCh37
NC_000023.9:g.123307972_123307978del	NCBI36
NG_007464.1:g.5142_5148del , LRG_106:g.5142_5148del
NG_033796.2:g.390882_390888del , LRG_782:g.390882_390888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-202_-196del (SH2D1A)	ENSP00000353126.4:n.-202_-196del
ENST00000647259.2:c.-202_-196del (SH2D1A)	ENSP00000494582.1:n.-202_-196del
ENST00000698112.1:n.499-19320_499-19314del (SH2D1A)
ENST00000698113.1:c.-202_-196del (SH2D1A)	ENSP00000513571.1:n.-202_-196del
ENST00000698114.1:n.71_77del (SH2D1A)
ENST00000698115.1:n.27_33del (SH2D1A)
ENST00000698116.1:c.-104_-98del (SH2D1A)	ENSP00000513572.1:n.-104_-98del
ENST00000647259.1:c.-202_-196del (SH2D1A)	ENSP00000494582.1:n.-202_-196del
ENST00000371139.8:c.-202_-196del (SH2D1A)	ENSP00000360181.4:n.-202_-196del
ENST00000469481.1:n.454-65381_454-65375del (STAG2)
ENST00000635645.1:n.499-19320_499-19314del (SH2D1A)
NM_001114937.2:c.-202_-196del (SH2D1A)	NP_001108409.1:n.-202_-196del
NM_002351.4:c.-202_-196del , LRG_106t1:c.-202_-196del (SH2D1A)	NP_002342.1:n.-202_-196del