Canonical Allele Identifier: CA297172

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 40637
• ClinVar RCV Id: RCV000159109 ; RCV000766822 ; RCV000799563 ; RCV001004912 ; RCV001261147 ; RCV001813276 ; RCV002390134
• dbSNP Id: rs730881019
• ExAC: 10:112724190 A / G
• gnomAD v2: 10-112724190-A-G
• gnomAD v3: 10-110964432-A-G
• gnomAD v4: 10-110964432-A-G
• MyVariant Identifiers: chr10:g.112724190A>G (hg19) ; chr10:g.110964432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964432A>G , CM000672.2:g.110964432A>G	GRCh38
NC_000010.10:g.112724190A>G , CM000672.1:g.112724190A>G	GRCh37
NC_000010.9:g.112714180A>G	NCBI36
NG_028922.1:g.49890A>G , LRG_753:g.49890A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.74A>G	ENSP00000265277.5:p.Glu25Gly
ENST00000451838.2:c.-242-35983A>G	ENSP00000408275.2:n.-242-35983A>G
ENST00000480155.2:n.310A>G
ENST00000685059.1:c.74A>G	ENSP00000510210.1:p.Glu25Gly
ENST00000685613.1:c.74A>G	ENSP00000510564.1:p.Glu25Gly
ENST00000687592.1:n.373A>G
ENST00000688928.1:c.74A>G	ENSP00000509273.1:p.Glu25Gly
ENST00000689118.1:c.74A>G	ENSP00000510554.1:p.Glu25Gly
ENST00000689300.1:c.74A>G	ENSP00000510639.1:p.Glu25Gly
ENST00000689997.1:c.-380-21196A>G	ENSP00000510700.1:n.-380-21196A>G
ENST00000691151.1:n.366A>G
ENST00000691369.1:c.74A>G	ENSP00000509754.1:p.Glu25Gly
ENST00000691441.1:c.74A>G	ENSP00000509686.1:p.Glu25Gly
ENST00000691903.1:c.74A>G	ENSP00000510314.1:p.Glu25Gly
ENST00000692776.1:c.74A>G	ENSP00000508524.1:p.Glu25Gly
ENST00000369452.9:c.74A>G MANE Select	ENSP00000358464.5:p.Glu25Gly
ENST00000265277.9:c.74A>G	ENSP00000265277.5:p.Glu25Gly
ENST00000369452.8:c.74A>G	ENSP00000358464.4:p.Glu25Gly
ENST00000480155.1:n.558A>G
ENST00000489390.1:n.56-35983A>G
ENST00000489783.1:n.452A>G
NM_001269039.1:c.74A>G	NP_001255968.1:p.Glu25Gly
NM_007373.3:c.74A>G , LRG_753t1:c.74A>G	NP_031399.2:p.Glu25Gly
XM_011540216.1:c.-380-21196A>G	XP_011538518.1:n.-380-21196A>G
NM_001269039.2:c.74A>G	NP_001255968.1:p.Glu25Gly
NM_001324336.1:c.74A>G	NP_001311265.1:p.Glu25Gly
NM_001324337.1:c.74A>G	NP_001311266.1:p.Glu25Gly
NR_136749.1:n.116-21196A>G
NM_007373.4:c.74A>G MANE Select	NP_031399.2:p.Glu25Gly
NM_001269039.3:c.74A>G	NP_001255968.1:p.Glu25Gly
NM_001324336.2:c.74A>G	NP_001311265.1:p.Glu25Gly
NM_001324337.2:c.74A>G	NP_001311266.1:p.Glu25Gly
NR_136749.2:n.55-21196A>G