Canonical Allele Identifier: CA414124395

Gene: SH2D1A STAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124370193T>A , CM000685.2:g.124370193T>A	GRCh38
NC_000023.10:g.123504043T>A , CM000685.1:g.123504043T>A	GRCh37
NC_000023.9:g.123331724T>A	NCBI36
NG_007464.1:g.28894T>A , LRG_106:g.28894T>A
NG_033796.2:g.414634T>A , LRG_782:g.414634T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002351.5:c.219T>A (SH2D1A) MANE Select	NP_002342.1:p.His73Gln
ENST00000371139.9:c.219T>A (SH2D1A) MANE Select	ENSP00000360181.5:p.His73Gln
NM_001114937.2:c.219T>A (SH2D1A)	NP_001108409.1:p.His73Gln
NM_001114937.3:c.219T>A (SH2D1A)	NP_001108409.1:p.His73Gln
NM_002351.4:c.219T>A , LRG_106t1:c.219T>A (SH2D1A)	NP_002342.1:p.His73Gln
ENST00000360027.4:c.219T>A (SH2D1A)	ENSP00000353126.4:p.His73Gln
ENST00000360027.5:c.219T>A (SH2D1A)	ENSP00000353126.4:p.His73Gln
ENST00000371139.8:c.219T>A (SH2D1A)	ENSP00000360181.4:p.His73Gln
ENST00000469481.1:n.454-41629T>A (STAG2)
ENST00000477673.2:c.180-38T>A (SH2D1A)	ENSP00000477094.1:n.180-38T>A
ENST00000491950.5:n.209T>A (SH2D1A)
ENST00000494073.5:n.192-38T>A (SH2D1A)
ENST00000635645.1:n.580T>A (SH2D1A)
ENST00000647259.1:c.*57T>A (SH2D1A)	ENSP00000494582.1:n.*57T>A
ENST00000647259.2:c.*57T>A (SH2D1A)	ENSP00000494582.1:n.*57T>A
ENST00000698112.1:n.563-38T>A (SH2D1A)
ENST00000698113.1:c.219T>A (SH2D1A)	ENSP00000513571.1:p.His73Gln
ENST00000698114.1:n.117-38T>A (SH2D1A)
ENST00000698115.1:n.154T>A (SH2D1A)
ENST00000698116.1:c.219T>A (SH2D1A)	ENSP00000513572.1:p.His73Gln
ENST00000698117.1:c.202-38T>A (SH2D1A)	ENSP00000513573.1:n.202-38T>A
ENST00000698118.1:c.219T>A (SH2D1A)	ENSP00000513574.1:p.His73Gln
ENST00000698119.1:n.518T>A (SH2D1A)
ENST00000698120.1:n.94-38T>A (SH2D1A)