Canonical Allele Identifier: CA10509282

Gene: SH2D1A STAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124370247T>C , CM000685.2:g.124370247T>C	GRCh38
NC_000023.10:g.123504097T>C , CM000685.1:g.123504097T>C	GRCh37
NC_000023.9:g.123331778T>C	NCBI36
NG_007464.1:g.28948T>C , LRG_106:g.28948T>C
NG_033796.2:g.414688T>C , LRG_782:g.414688T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002351.5:c.273T>C (SH2D1A) MANE Select	NP_002342.1:p.Asp91=
ENST00000371139.9:c.273T>C (SH2D1A) MANE Select	ENSP00000360181.5:p.Asp91=
NM_001114937.2:c.273T>C (SH2D1A)	NP_001108409.1:p.Asp91=
NM_001114937.3:c.273T>C (SH2D1A)	NP_001108409.1:p.Asp91=
NM_002351.4:c.273T>C , LRG_106t1:c.273T>C (SH2D1A)	NP_002342.1:p.Asp91=
ENST00000360027.4:c.273T>C (SH2D1A)	ENSP00000353126.4:p.Asp91=
ENST00000360027.5:c.273T>C (SH2D1A)	ENSP00000353126.4:p.Asp91=
ENST00000371139.8:c.273T>C (SH2D1A)	ENSP00000360181.4:p.Asp91=
ENST00000469481.1:n.454-41575T>C (STAG2)
ENST00000477673.2:c.196T>C (SH2D1A)	ENSP00000477094.1:p.Ser66Pro
ENST00000491950.5:n.263T>C (SH2D1A)
ENST00000494073.5:n.208T>C (SH2D1A)
ENST00000635645.1:n.634T>C (SH2D1A)
ENST00000647259.1:c.*111T>C (SH2D1A)	ENSP00000494582.1:n.*111T>C
ENST00000647259.2:c.*111T>C (SH2D1A)	ENSP00000494582.1:n.*111T>C
ENST00000698112.1:n.579T>C (SH2D1A)
ENST00000698113.1:c.273T>C (SH2D1A)	ENSP00000513571.1:p.Asp91=
ENST00000698114.1:n.133T>C (SH2D1A)
ENST00000698115.1:n.208T>C (SH2D1A)
ENST00000698116.1:c.273T>C (SH2D1A)	ENSP00000513572.1:p.Asp91=
ENST00000698117.1:c.218T>C (SH2D1A)	ENSP00000513573.1:p.Ile73Thr
ENST00000698118.1:c.273T>C (SH2D1A)	ENSP00000513574.1:p.Asp91=
ENST00000698119.1:n.572T>C (SH2D1A)
ENST00000698120.1:n.110T>C (SH2D1A)