Canonical Allele Identifier: CA414125200
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000360027.5:c.376T>G (SH2D1A) ENSP00000353126.4:p.Ter126Gly
ENST00000647259.2:c.*223T>G (SH2D1A) ENSP00000494582.1:n.*223T>G
ENST00000698112.1:n.691T>G (SH2D1A)
ENST00000698113.1:c.385T>G (SH2D1A) ENSP00000513571.1:p.Ter129Gly
ENST00000698114.1:n.245T>G (SH2D1A)
ENST00000698115.1:n.320T>G (SH2D1A)
ENST00000698116.1:c.385T>G (SH2D1A) ENSP00000513572.1:p.Ter129Gly
ENST00000698117.1:c.*99T>G (SH2D1A) ENSP00000513573.1:n.*99T>G
ENST00000698118.1:c.385T>G (SH2D1A) ENSP00000513574.1:p.Ter129Gly
ENST00000698119.1:n.684T>G (SH2D1A)
ENST00000698120.1:n.222T>G (SH2D1A)
ENST00000371139.9:c.385T>G (SH2D1A) MANE Select ENSP00000360181.5:p.Ter129Gly
ENST00000647259.1:c.*223T>G (SH2D1A) ENSP00000494582.1:n.*223T>G
ENST00000360027.4:c.376T>G (SH2D1A) ENSP00000353126.4:p.Ter126Gly
ENST00000371139.8:c.385T>G (SH2D1A) ENSP00000360181.4:p.Ter129Gly
ENST00000469481.1:n.454-40433T>G (STAG2)
ENST00000477673.2:c.*77T>G (SH2D1A) ENSP00000477094.1:n.*77T>G
ENST00000491950.5:n.375T>G (SH2D1A)
ENST00000494073.5:n.320T>G (SH2D1A)
ENST00000635645.1:n.746T>G (SH2D1A)
NM_001114937.2:c.376T>G (SH2D1A) NP_001108409.1:p.Ter126Gly
NM_002351.4:c.385T>G , LRG_106t1:c.385T>G (SH2D1A) NP_002342.1:p.Ter129Gly
NM_002351.5:c.385T>G (SH2D1A) MANE Select NP_002342.1:p.Ter129Gly
NM_001114937.3:c.376T>G (SH2D1A) NP_001108409.1:p.Ter126Gly
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