Canonical Allele Identifier: CA335071274

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs924971778
• gnomAD v3: X-124346577-T-TGCA
• gnomAD v4: X-124346577-T-TGCA
• MyVariant Identifiers: chrX:g.123480427_123480428insGCA (hg19) ; chrX:g.124346577_124346578insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346579_124346581dup , CM000685.2:g.124346579_124346581dup	GRCh38
NC_000023.10:g.123480429_123480431dup , CM000685.1:g.123480429_123480431dup	GRCh37
NC_000023.9:g.123308110_123308112dup	NCBI36
NG_007464.1:g.5280_5282dup , LRG_106:g.5280_5282dup
NG_033796.2:g.391020_391022dup , LRG_782:g.391020_391022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.-64_-62dup (SH2D1A)	ENSP00000353126.4:n.-64_-62dup
ENST00000647259.2:c.-64_-62dup (SH2D1A)	ENSP00000494582.1:n.-64_-62dup
ENST00000698112.1:n.499-19182_499-19180dup (SH2D1A)
ENST00000698113.1:c.-64_-62dup (SH2D1A)	ENSP00000513571.1:n.-64_-62dup
ENST00000698114.1:n.116+93_116+95dup (SH2D1A)
ENST00000698115.1:n.72+93_72+95dup (SH2D1A)
ENST00000698116.1:c.-58-6_-58-4dup (SH2D1A)	ENSP00000513572.1:n.-58-6_-58-4dup
ENST00000698117.1:c.-64_-62dup (SH2D1A)	ENSP00000513573.1:n.-64_-62dup
ENST00000371139.9:c.-64_-62dup (SH2D1A) MANE Select	ENSP00000360181.5:n.-64_-62dup
ENST00000647259.1:c.-64_-62dup (SH2D1A)	ENSP00000494582.1:n.-64_-62dup
ENST00000360027.4:c.-64_-62dup (SH2D1A)	ENSP00000353126.4:n.-64_-62dup
ENST00000371139.8:c.-64_-62dup (SH2D1A)	ENSP00000360181.4:n.-64_-62dup
ENST00000469481.1:n.454-65243_454-65241dup (STAG2)
ENST00000635645.1:n.499-19182_499-19180dup (SH2D1A)
NM_001114937.2:c.-64_-62dup (SH2D1A)	NP_001108409.1:n.-64_-62dup
NM_002351.4:c.-64_-62dup , LRG_106t1:c.-64_-62dup (SH2D1A)	NP_002342.1:n.-64_-62dup
NM_002351.5:c.-64_-62dup (SH2D1A) MANE Select	NP_002342.1:n.-64_-62dup
NM_001114937.3:c.-64_-62dup (SH2D1A)	NP_001108409.1:n.-64_-62dup