Canonical Allele Identifier: CA1139667788

Gene: SH2D1A STAG2

Linked Data

• ClinVar Variation Id: 956716
• ClinVar RCV Id: RCV001229574
• dbSNP Id: rs2059993641

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346724_124346744dup , CM000685.2:g.124346724_124346744dup	GRCh38
NC_000023.10:g.123480574_123480594dup , CM000685.1:g.123480574_123480594dup	GRCh37
NC_000023.9:g.123308255_123308275dup	NCBI36
NG_007464.1:g.5425_5445dup , LRG_106:g.5425_5445dup
NG_033796.2:g.391165_391185dup , LRG_782:g.391165_391185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.82_102dup (SH2D1A)	ENSP00000353126.4:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000647259.2:c.82_102dup (SH2D1A)	ENSP00000494582.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000698112.1:n.499-19037_499-19017dup (SH2D1A)
ENST00000698113.1:c.82_102dup (SH2D1A)	ENSP00000513571.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000698114.1:n.116+238_116+258dup (SH2D1A)
ENST00000698115.1:n.72+238_72+258dup (SH2D1A)
ENST00000698116.1:c.82_102dup (SH2D1A)	ENSP00000513572.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000698117.1:c.82_102dup (SH2D1A)	ENSP00000513573.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000698118.1:c.82_102dup (SH2D1A)	ENSP00000513574.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000371139.9:c.82_102dup (SH2D1A) MANE Select	ENSP00000360181.5:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000647259.1:c.82_102dup (SH2D1A)	ENSP00000494582.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000360027.4:c.82_102dup (SH2D1A)	ENSP00000353126.4:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000371139.8:c.82_102dup (SH2D1A)	ENSP00000360181.4:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000469481.1:n.454-65098_454-65078dup (STAG2)
ENST00000477673.2:c.82_102dup (SH2D1A)	ENSP00000477094.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
ENST00000491950.5:n.136_156dup (SH2D1A)
ENST00000494073.5:n.136_156dup (SH2D1A)
ENST00000635645.1:n.499-19037_499-19017dup (SH2D1A)
NM_001114937.2:c.82_102dup (SH2D1A)	NP_001108409.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
NM_002351.4:c.82_102dup , LRG_106t1:c.82_102dup (SH2D1A)	NP_002342.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
NM_002351.5:c.82_102dup (SH2D1A) MANE Select	NP_002342.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer
NM_001114937.3:c.82_102dup (SH2D1A)	NP_001108409.1:p.Ser34_Glu35insSerTyrLeuLeuArgAspSer