Canonical Allele Identifier: CA2456214246
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124365787G= , CM000685.2:g.124365787G= GRCh38
NC_000023.10:g.123499637G= , CM000685.1:g.123499637G= GRCh37
NC_000023.9:g.123327318G= NCBI36
NG_007464.1:g.24488G= , LRG_106:g.24488G=
NG_033796.2:g.410228G= , LRG_782:g.410228G=

Transcript Alleles

HGVS Amino-acid Change
NM_002351.5:c.164G= (SH2D1A) MANE Select NP_002342.1:p.Arg55=
ENST00000371139.9:c.164G= (SH2D1A) MANE Select ENSP00000360181.5:p.Arg55=
NM_001114937.2:c.164G= (SH2D1A) NP_001108409.1:p.Arg55=
NM_001114937.3:c.164G= (SH2D1A) NP_001108409.1:p.Arg55=
NM_002351.4:c.164G= , LRG_106t1:c.164G= (SH2D1A) NP_002342.1:p.Arg55=
ENST00000360027.4:c.164G= (SH2D1A) ENSP00000353126.4:p.Arg55=
ENST00000360027.5:c.164G= (SH2D1A) ENSP00000353126.4:p.Arg55=
ENST00000371139.8:c.164G= (SH2D1A) ENSP00000360181.4:p.Arg55=
ENST00000469481.1:n.454-46035G= (STAG2)
ENST00000477673.2:c.142G= (SH2D1A) ENSP00000477094.1:p.Glu48=
ENST00000491950.5:n.192-4389G= (SH2D1A)
ENST00000494073.5:n.192-4444G= (SH2D1A)
ENST00000635645.1:n.525G= (SH2D1A)
ENST00000647259.1:c.164G= (SH2D1A) ENSP00000494582.1:p.Arg55=
ENST00000647259.2:c.164G= (SH2D1A) ENSP00000494582.1:p.Arg55=
ENST00000698112.1:n.525G= (SH2D1A)
ENST00000698113.1:c.164G= (SH2D1A) ENSP00000513571.1:p.Arg55=
ENST00000698114.1:n.117-4444G= (SH2D1A)
ENST00000698115.1:n.99G= (SH2D1A)
ENST00000698116.1:c.164G= (SH2D1A) ENSP00000513572.1:p.Arg55=
ENST00000698117.1:c.164G= (SH2D1A) ENSP00000513573.1:p.Arg55=
ENST00000698118.1:c.164G= (SH2D1A) ENSP00000513574.1:p.Arg55=
ENST00000698119.1:n.463G= (SH2D1A)