Canonical Allele Identifier: CA185080
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 179760
dbSNP Id: rs536611911

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110964528C>T , CM000672.2:g.110964528C>T GRCh38
NC_000010.10:g.112724286C>T , CM000672.1:g.112724286C>T GRCh37
NC_000010.9:g.112714276C>T NCBI36
NG_028922.1:g.49986C>T , LRG_753:g.49986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.170C>T ENSP00000265277.5:p.Ser57Phe
ENST00000451838.2:c.-242-35887C>T ENSP00000408275.2:n.-242-35887C>T
ENST00000480155.2:n.406C>T
ENST00000685059.1:c.170C>T ENSP00000510210.1:p.Ser57Phe
ENST00000685613.1:c.170C>T ENSP00000510564.1:p.Ser57Phe
ENST00000687592.1:n.469C>T
ENST00000688928.1:c.170C>T ENSP00000509273.1:p.Ser57Phe
ENST00000689118.1:c.170C>T ENSP00000510554.1:p.Ser57Phe
ENST00000689300.1:c.170C>T ENSP00000510639.1:p.Ser57Phe
ENST00000689997.1:c.-380-21100C>T ENSP00000510700.1:n.-380-21100C>T
ENST00000691151.1:n.462C>T
ENST00000691369.1:c.170C>T ENSP00000509754.1:p.Ser57Phe
ENST00000691441.1:c.170C>T ENSP00000509686.1:p.Ser57Phe
ENST00000691903.1:c.170C>T ENSP00000510314.1:p.Ser57Phe
ENST00000692776.1:c.170C>T ENSP00000508524.1:p.Ser57Phe
ENST00000369452.9:c.170C>T MANE Select ENSP00000358464.5:p.Ser57Phe
ENST00000265277.9:c.170C>T ENSP00000265277.5:p.Ser57Phe
ENST00000369452.8:c.170C>T ENSP00000358464.4:p.Ser57Phe
ENST00000489390.1:n.56-35887C>T
ENST00000489783.1:n.548C>T
NM_001269039.1:c.170C>T NP_001255968.1:p.Ser57Phe
NM_007373.3:c.170C>T , LRG_753t1:c.170C>T NP_031399.2:p.Ser57Phe
XM_011540216.1:c.-380-21100C>T XP_011538518.1:n.-380-21100C>T
NM_001269039.2:c.170C>T NP_001255968.1:p.Ser57Phe
NM_001324336.1:c.170C>T NP_001311265.1:p.Ser57Phe
NM_001324337.1:c.170C>T NP_001311266.1:p.Ser57Phe
NR_136749.1:n.116-21100C>T
NM_007373.4:c.170C>T MANE Select NP_031399.2:p.Ser57Phe
NM_001269039.3:c.170C>T NP_001255968.1:p.Ser57Phe
NM_001324336.2:c.170C>T NP_001311265.1:p.Ser57Phe
NM_001324337.2:c.170C>T NP_001311266.1:p.Ser57Phe
NR_136749.2:n.55-21100C>T