Canonical Allele Identifier: CA2694635509

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346538-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346539_124346540del , CM000685.2:g.124346539_124346540del	GRCh38
NC_000023.10:g.123480389_123480390del , CM000685.1:g.123480389_123480390del	GRCh37
NC_000023.9:g.123308070_123308071del	NCBI36
NG_007464.1:g.5240_5241del , LRG_106:g.5240_5241del
NG_033796.2:g.390980_390981del , LRG_782:g.390980_390981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-104_-103del (SH2D1A)	ENSP00000353126.4:n.-104_-103del
ENST00000647259.2:c.-104_-103del (SH2D1A)	ENSP00000494582.1:n.-104_-103del
ENST00000698112.1:n.499-19222_499-19221del (SH2D1A)
ENST00000698113.1:c.-104_-103del (SH2D1A)	ENSP00000513571.1:n.-104_-103del
ENST00000698114.1:n.116+53_116+54del (SH2D1A)
ENST00000698115.1:n.72+53_72+54del (SH2D1A)
ENST00000698116.1:c.-58-46_-58-45del (SH2D1A)	ENSP00000513572.1:n.-58-46_-58-45del
ENST00000698117.1:c.-104_-103del (SH2D1A)	ENSP00000513573.1:n.-104_-103del
ENST00000647259.1:c.-104_-103del (SH2D1A)	ENSP00000494582.1:n.-104_-103del
ENST00000360027.4:c.-104_-103del (SH2D1A)	ENSP00000353126.4:n.-104_-103del
ENST00000371139.8:c.-104_-103del (SH2D1A)	ENSP00000360181.4:n.-104_-103del
ENST00000469481.1:n.454-65283_454-65282del (STAG2)
ENST00000635645.1:n.499-19222_499-19221del (SH2D1A)
NM_001114937.2:c.-104_-103del (SH2D1A)	NP_001108409.1:n.-104_-103del
NM_002351.4:c.-104_-103del , LRG_106t1:c.-104_-103del (SH2D1A)	NP_002342.1:n.-104_-103del