Canonical Allele Identifier: CA414124815

Gene: SH2D1A STAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124370269C>T , CM000685.2:g.124370269C>T	GRCh38
NC_000023.10:g.123504119C>T , CM000685.1:g.123504119C>T	GRCh37
NC_000023.9:g.123331800C>T	NCBI36
NG_007464.1:g.28970C>T , LRG_106:g.28970C>T
NG_033796.2:g.414710C>T , LRG_782:g.414710C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002351.5:c.295C>T (SH2D1A) MANE Select	NP_002342.1:p.Gln99Ter
ENST00000371139.9:c.295C>T (SH2D1A) MANE Select	ENSP00000360181.5:p.Gln99Ter
NM_001114937.2:c.295C>T (SH2D1A)	NP_001108409.1:p.Gln99Ter
NM_001114937.3:c.295C>T (SH2D1A)	NP_001108409.1:p.Gln99Ter
NM_002351.4:c.295C>T , LRG_106t1:c.295C>T (SH2D1A)	NP_002342.1:p.Gln99Ter
ENST00000360027.4:c.295C>T (SH2D1A)	ENSP00000353126.4:p.Gln99Ter
ENST00000360027.5:c.295C>T (SH2D1A)	ENSP00000353126.4:p.Gln99Ter
ENST00000371139.8:c.295C>T (SH2D1A)	ENSP00000360181.4:p.Gln99Ter
ENST00000469481.1:n.454-41553C>T (STAG2)
ENST00000477673.2:c.218C>T (SH2D1A)	ENSP00000477094.1:p.Ala73Val
ENST00000491950.5:n.285C>T (SH2D1A)
ENST00000494073.5:n.230C>T (SH2D1A)
ENST00000635645.1:n.656C>T (SH2D1A)
ENST00000647259.1:c.*133C>T (SH2D1A)	ENSP00000494582.1:n.*133C>T
ENST00000647259.2:c.*133C>T (SH2D1A)	ENSP00000494582.1:n.*133C>T
ENST00000698112.1:n.601C>T (SH2D1A)
ENST00000698113.1:c.295C>T (SH2D1A)	ENSP00000513571.1:p.Gln99Ter
ENST00000698114.1:n.155C>T (SH2D1A)
ENST00000698115.1:n.230C>T (SH2D1A)
ENST00000698116.1:c.295C>T (SH2D1A)	ENSP00000513572.1:p.Gln99Ter
ENST00000698117.1:c.*9C>T (SH2D1A)	ENSP00000513573.1:n.*9C>T
ENST00000698118.1:c.295C>T (SH2D1A)	ENSP00000513574.1:p.Gln99Ter
ENST00000698119.1:n.594C>T (SH2D1A)
ENST00000698120.1:n.132C>T (SH2D1A)