Canonical Allele Identifier: CA471508064

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 1623992
• ClinVar RCV Id: RCV002113650
• dbSNP Id: rs1847641416
• MyVariant Identifiers: chr10:g.112724539G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964781G>A , CM000672.2:g.110964781G>A	GRCh38
NC_000010.10:g.112724539G>A , CM000672.1:g.112724539G>A	GRCh37
NC_000010.9:g.112714529G>A	NCBI36
NG_028922.1:g.50239G>A , LRG_753:g.50239G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.423G>A	ENSP00000265277.5:p.Glu141=
ENST00000451838.2:c.-242-35634G>A	ENSP00000408275.2:n.-242-35634G>A
ENST00000480155.2:n.659G>A
ENST00000685059.1:c.423G>A	ENSP00000510210.1:p.Glu141=
ENST00000685613.1:c.423G>A	ENSP00000510564.1:p.Glu141=
ENST00000687592.1:n.722G>A
ENST00000688928.1:c.423G>A	ENSP00000509273.1:p.Glu141=
ENST00000689118.1:c.423G>A	ENSP00000510554.1:p.Glu141=
ENST00000689300.1:c.423G>A	ENSP00000510639.1:p.Glu141=
ENST00000689997.1:c.-380-20847G>A	ENSP00000510700.1:n.-380-20847G>A
ENST00000691151.1:n.715G>A
ENST00000691369.1:c.423G>A	ENSP00000509754.1:p.Glu141=
ENST00000691441.1:c.423G>A	ENSP00000509686.1:p.Glu141=
ENST00000691903.1:c.423G>A	ENSP00000510314.1:p.Glu141=
ENST00000692776.1:c.423G>A	ENSP00000508524.1:p.Glu141=
ENST00000369452.9:c.423G>A MANE Select	ENSP00000358464.5:p.Glu141=
ENST00000265277.9:c.423G>A	ENSP00000265277.5:p.Glu141=
ENST00000369452.8:c.423G>A	ENSP00000358464.4:p.Glu141=
ENST00000489390.1:n.56-35634G>A
NM_001269039.1:c.423G>A	NP_001255968.1:p.Glu141=
NM_007373.3:c.423G>A , LRG_753t1:c.423G>A	NP_031399.2:p.Glu141=
XM_011540216.1:c.-380-20847G>A	XP_011538518.1:n.-380-20847G>A
NM_001269039.2:c.423G>A	NP_001255968.1:p.Glu141=
NM_001324336.1:c.423G>A	NP_001311265.1:p.Glu141=
NM_001324337.1:c.423G>A	NP_001311266.1:p.Glu141=
NR_136749.1:n.116-20847G>A
NM_007373.4:c.423G>A MANE Select	NP_031399.2:p.Glu141=
NM_001269039.3:c.423G>A	NP_001255968.1:p.Glu141=
NM_001324336.2:c.423G>A	NP_001311265.1:p.Glu141=
NM_001324337.2:c.423G>A	NP_001311266.1:p.Glu141=
NR_136749.2:n.55-20847G>A