Canonical Allele Identifier: CA414123672

Gene: SH2D1A STAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124365814G>C , CM000685.2:g.124365814G>C	GRCh38
NC_000023.10:g.123499664G>C , CM000685.1:g.123499664G>C	GRCh37
NC_000023.9:g.123327345G>C	NCBI36
NG_007464.1:g.24515G>C , LRG_106:g.24515G>C
NG_033796.2:g.410255G>C , LRG_782:g.410255G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002351.5:c.191G>C (SH2D1A) MANE Select	NP_002342.1:p.Trp64Ser
ENST00000371139.9:c.191G>C (SH2D1A) MANE Select	ENSP00000360181.5:p.Trp64Ser
NM_001114937.2:c.191G>C (SH2D1A)	NP_001108409.1:p.Trp64Ser
NM_001114937.3:c.191G>C (SH2D1A)	NP_001108409.1:p.Trp64Ser
NM_002351.4:c.191G>C , LRG_106t1:c.191G>C (SH2D1A)	NP_002342.1:p.Trp64Ser
ENST00000360027.4:c.191G>C (SH2D1A)	ENSP00000353126.4:p.Trp64Ser
ENST00000360027.5:c.191G>C (SH2D1A)	ENSP00000353126.4:p.Trp64Ser
ENST00000371139.8:c.191G>C (SH2D1A)	ENSP00000360181.4:p.Trp64Ser
ENST00000469481.1:n.454-46008G>C (STAG2)
ENST00000477673.2:c.169G>C (SH2D1A)	ENSP00000477094.1:p.Gly57Arg
ENST00000491950.5:n.192-4362G>C (SH2D1A)
ENST00000494073.5:n.192-4417G>C (SH2D1A)
ENST00000635645.1:n.552G>C (SH2D1A)
ENST00000647259.1:c.191G>C (SH2D1A)	ENSP00000494582.1:p.Trp64Ser
ENST00000647259.2:c.191G>C (SH2D1A)	ENSP00000494582.1:p.Trp64Ser
ENST00000698112.1:n.552G>C (SH2D1A)
ENST00000698113.1:c.191G>C (SH2D1A)	ENSP00000513571.1:p.Trp64Ser
ENST00000698114.1:n.117-4417G>C (SH2D1A)
ENST00000698115.1:n.126G>C (SH2D1A)
ENST00000698116.1:c.191G>C (SH2D1A)	ENSP00000513572.1:p.Trp64Ser
ENST00000698117.1:c.191G>C (SH2D1A)	ENSP00000513573.1:p.Trp64Ser
ENST00000698118.1:c.191G>C (SH2D1A)	ENSP00000513574.1:p.Trp64Ser
ENST00000698119.1:n.490G>C (SH2D1A)