Canonical Allele Identifier: CA2456214247
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124365795C= , CM000685.2:g.124365795C= GRCh38
NC_000023.10:g.123499645C= , CM000685.1:g.123499645C= GRCh37
NC_000023.9:g.123327326C= NCBI36
NG_007464.1:g.24496C= , LRG_106:g.24496C=
NG_033796.2:g.410236C= , LRG_782:g.410236C=

Transcript Alleles

HGVS Amino-acid Change
NM_002351.5:c.172C= (SH2D1A) MANE Select NP_002342.1:p.Gln58=
ENST00000371139.9:c.172C= (SH2D1A) MANE Select ENSP00000360181.5:p.Gln58=
NM_001114937.2:c.172C= (SH2D1A) NP_001108409.1:p.Gln58=
NM_001114937.3:c.172C= (SH2D1A) NP_001108409.1:p.Gln58=
NM_002351.4:c.172C= , LRG_106t1:c.172C= (SH2D1A) NP_002342.1:p.Gln58=
ENST00000360027.4:c.172C= (SH2D1A) ENSP00000353126.4:p.Gln58=
ENST00000360027.5:c.172C= (SH2D1A) ENSP00000353126.4:p.Gln58=
ENST00000371139.8:c.172C= (SH2D1A) ENSP00000360181.4:p.Gln58=
ENST00000469481.1:n.454-46027C= (STAG2)
ENST00000477673.2:c.150C= (SH2D1A) ENSP00000477094.1:p.Pro50=
ENST00000491950.5:n.192-4381C= (SH2D1A)
ENST00000494073.5:n.192-4436C= (SH2D1A)
ENST00000635645.1:n.533C= (SH2D1A)
ENST00000647259.1:c.172C= (SH2D1A) ENSP00000494582.1:p.Gln58=
ENST00000647259.2:c.172C= (SH2D1A) ENSP00000494582.1:p.Gln58=
ENST00000698112.1:n.533C= (SH2D1A)
ENST00000698113.1:c.172C= (SH2D1A) ENSP00000513571.1:p.Gln58=
ENST00000698114.1:n.117-4436C= (SH2D1A)
ENST00000698115.1:n.107C= (SH2D1A)
ENST00000698116.1:c.172C= (SH2D1A) ENSP00000513572.1:p.Gln58=
ENST00000698117.1:c.172C= (SH2D1A) ENSP00000513573.1:p.Gln58=
ENST00000698118.1:c.172C= (SH2D1A) ENSP00000513574.1:p.Gln58=
ENST00000698119.1:n.471C= (SH2D1A)