Canonical Allele Identifier: CA2456216150
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124371389T= , CM000685.2:g.124371389T= GRCh38
NC_000023.10:g.123505239T= , CM000685.1:g.123505239T= GRCh37
NC_000023.9:g.123332920T= NCBI36
NG_007464.1:g.30090T= , LRG_106:g.30090T=
NG_033796.2:g.415830T= , LRG_782:g.415830T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000360027.5:c.376T= (SH2D1A) ENSP00000353126.4:p.Ter126=
ENST00000647259.2:c.*223T= (SH2D1A) ENSP00000494582.1:n.*223T=
ENST00000698112.1:n.691T= (SH2D1A)
ENST00000698113.1:c.385T= (SH2D1A) ENSP00000513571.1:p.Ter129=
ENST00000698114.1:n.245T= (SH2D1A)
ENST00000698115.1:n.320T= (SH2D1A)
ENST00000698116.1:c.385T= (SH2D1A) ENSP00000513572.1:p.Ter129=
ENST00000698117.1:c.*99T= (SH2D1A) ENSP00000513573.1:n.*99T=
ENST00000698118.1:c.385T= (SH2D1A) ENSP00000513574.1:p.Ter129=
ENST00000698119.1:n.684T= (SH2D1A)
ENST00000698120.1:n.222T= (SH2D1A)
ENST00000371139.9:c.385T= (SH2D1A) MANE Select ENSP00000360181.5:p.Ter129=
ENST00000647259.1:c.*223T= (SH2D1A) ENSP00000494582.1:n.*223T=
ENST00000360027.4:c.376T= (SH2D1A) ENSP00000353126.4:p.Ter126=
ENST00000371139.8:c.385T= (SH2D1A) ENSP00000360181.4:p.Ter129=
ENST00000469481.1:n.454-40433T= (STAG2)
ENST00000477673.2:c.*77T= (SH2D1A) ENSP00000477094.1:n.*77T=
ENST00000491950.5:n.375T= (SH2D1A)
ENST00000494073.5:n.320T= (SH2D1A)
ENST00000635645.1:n.746T= (SH2D1A)
NM_001114937.2:c.376T= (SH2D1A) NP_001108409.1:p.Ter126=
NM_002351.4:c.385T= , LRG_106t1:c.385T= (SH2D1A) NP_002342.1:p.Ter129=
NM_002351.5:c.385T= (SH2D1A) MANE Select NP_002342.1:p.Ter129=
NM_001114937.3:c.376T= (SH2D1A) NP_001108409.1:p.Ter126=