Canonical Allele Identifier: CA378386100

Gene: SHOC2

Linked Data

• dbSNP Id: rs1847644601
• gnomAD v4: 10-110964929-C-G
• MyVariant Identifiers: chr10:g.112724687C>G (hg19) ; chr10:g.110964929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964929C>G , CM000672.2:g.110964929C>G	GRCh38
NC_000010.10:g.112724687C>G , CM000672.1:g.112724687C>G	GRCh37
NC_000010.9:g.112714677C>G	NCBI36
NG_028922.1:g.50387C>G , LRG_753:g.50387C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.571C>G	ENSP00000265277.5:p.Leu191Val
ENST00000451838.2:c.-242-35486C>G	ENSP00000408275.2:n.-242-35486C>G
ENST00000480155.2:n.807C>G
ENST00000685059.1:c.571C>G	ENSP00000510210.1:p.Leu191Val
ENST00000685613.1:c.571C>G	ENSP00000510564.1:p.Leu191Val
ENST00000687592.1:n.870C>G
ENST00000688928.1:c.571C>G	ENSP00000509273.1:p.Leu191Val
ENST00000689118.1:c.571C>G	ENSP00000510554.1:p.Leu191Val
ENST00000689300.1:c.571C>G	ENSP00000510639.1:p.Leu191Val
ENST00000689997.1:c.-380-20699C>G	ENSP00000510700.1:n.-380-20699C>G
ENST00000691151.1:n.863C>G
ENST00000691369.1:c.571C>G	ENSP00000509754.1:p.Leu191Val
ENST00000691441.1:c.571C>G	ENSP00000509686.1:p.Leu191Val
ENST00000691903.1:c.571C>G	ENSP00000510314.1:p.Leu191Val
ENST00000692776.1:c.571C>G	ENSP00000508524.1:p.Leu191Val
ENST00000369452.9:c.571C>G MANE Select	ENSP00000358464.5:p.Leu191Val
ENST00000265277.9:c.571C>G	ENSP00000265277.5:p.Leu191Val
ENST00000369452.8:c.571C>G	ENSP00000358464.4:p.Leu191Val
ENST00000451838.1:c.79C>G	ENSP00000408275.1:p.Leu27Val
ENST00000489390.1:n.56-35486C>G
NM_001269039.1:c.571C>G	NP_001255968.1:p.Leu191Val
NM_007373.3:c.571C>G , LRG_753t1:c.571C>G	NP_031399.2:p.Leu191Val
XM_011540216.1:c.-380-20699C>G	XP_011538518.1:n.-380-20699C>G
NM_001269039.2:c.571C>G	NP_001255968.1:p.Leu191Val
NM_001324336.1:c.571C>G	NP_001311265.1:p.Leu191Val
NM_001324337.1:c.571C>G	NP_001311266.1:p.Leu191Val
NR_136749.1:n.116-20699C>G
NM_007373.4:c.571C>G MANE Select	NP_031399.2:p.Leu191Val
NM_001269039.3:c.571C>G	NP_001255968.1:p.Leu191Val
NM_001324336.2:c.571C>G	NP_001311265.1:p.Leu191Val
NM_001324337.2:c.571C>G	NP_001311266.1:p.Leu191Val
NR_136749.2:n.55-20699C>G