Canonical Allele Identifier: CA2843383022
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346830A>G , CM000685.2:g.124346830A>G GRCh38
NC_000023.10:g.123480680A>G , CM000685.1:g.123480680A>G GRCh37
NC_000023.9:g.123308361A>G NCBI36
NG_007464.1:g.5531A>G , LRG_106:g.5531A>G
NG_033796.2:g.391271A>G , LRG_782:g.391271A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360027.5:c.137+51A>G (SH2D1A) ENSP00000353126.4:n.137+51A>G
ENST00000647259.2:c.137+51A>G (SH2D1A) ENSP00000494582.1:n.137+51A>G
ENST00000698112.1:n.499-18931A>G (SH2D1A)
ENST00000698113.1:c.137+51A>G (SH2D1A) ENSP00000513571.1:n.137+51A>G
ENST00000698114.1:n.116+344A>G (SH2D1A)
ENST00000698115.1:n.72+344A>G (SH2D1A)
ENST00000698116.1:c.137+51A>G (SH2D1A) ENSP00000513572.1:n.137+51A>G
ENST00000698117.1:c.137+51A>G (SH2D1A) ENSP00000513573.1:n.137+51A>G
ENST00000698118.1:c.137+51A>G (SH2D1A) ENSP00000513574.1:n.137+51A>G
ENST00000371139.9:c.137+51A>G (SH2D1A) MANE Select ENSP00000360181.5:n.137+51A>G
ENST00000647259.1:c.137+51A>G (SH2D1A) ENSP00000494582.1:n.137+51A>G
ENST00000360027.4:c.137+51A>G (SH2D1A) ENSP00000353126.4:n.137+51A>G
ENST00000371139.8:c.137+51A>G (SH2D1A) ENSP00000360181.4:n.137+51A>G
ENST00000469481.1:n.454-64992A>G (STAG2)
ENST00000477673.2:c.115+73A>G (SH2D1A) ENSP00000477094.1:n.115+73A>G
ENST00000491950.5:n.191+51A>G (SH2D1A)
ENST00000494073.5:n.191+51A>G (SH2D1A)
ENST00000635645.1:n.499-18931A>G (SH2D1A)
NM_001114937.2:c.137+51A>G (SH2D1A) NP_001108409.1:n.137+51A>G
NM_002351.4:c.137+51A>G , LRG_106t1:c.137+51A>G (SH2D1A) NP_002342.1:n.137+51A>G
NM_002351.5:c.137+51A>G (SH2D1A) MANE Select NP_002342.1:n.137+51A>G
NM_001114937.3:c.137+51A>G (SH2D1A) NP_001108409.1:n.137+51A>G