Canonical Allele Identifier: CA5689576
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334278
ClinVar RCV Id: RCV001813693 RCV001869621
dbSNP Id: rs149084468
ExAC: 10:112724448 C / T
gnomAD v2: 10-112724448-C-T
gnomAD v3: 10-110964690-C-T
gnomAD v4: 10-110964690-C-T
MyVariant Identifiers: chr10:g.112724448C>T (hg19) chr10:g.110964690C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110964690C>T , CM000672.2:g.110964690C>T GRCh38
NC_000010.10:g.112724448C>T , CM000672.1:g.112724448C>T GRCh37
NC_000010.9:g.112714438C>T NCBI36
NG_028922.1:g.50148C>T , LRG_753:g.50148C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.332C>T ENSP00000265277.5:p.Ser111Phe
ENST00000451838.2:c.-242-35725C>T ENSP00000408275.2:n.-242-35725C>T
ENST00000480155.2:n.568C>T
ENST00000685059.1:c.332C>T ENSP00000510210.1:p.Ser111Phe
ENST00000685613.1:c.332C>T ENSP00000510564.1:p.Ser111Phe
ENST00000687592.1:n.631C>T
ENST00000688928.1:c.332C>T ENSP00000509273.1:p.Ser111Phe
ENST00000689118.1:c.332C>T ENSP00000510554.1:p.Ser111Phe
ENST00000689300.1:c.332C>T ENSP00000510639.1:p.Ser111Phe
ENST00000689997.1:c.-380-20938C>T ENSP00000510700.1:n.-380-20938C>T
ENST00000691151.1:n.624C>T
ENST00000691369.1:c.332C>T ENSP00000509754.1:p.Ser111Phe
ENST00000691441.1:c.332C>T ENSP00000509686.1:p.Ser111Phe
ENST00000691903.1:c.332C>T ENSP00000510314.1:p.Ser111Phe
ENST00000692776.1:c.332C>T ENSP00000508524.1:p.Ser111Phe
ENST00000369452.9:c.332C>T MANE Select ENSP00000358464.5:p.Ser111Phe
ENST00000265277.9:c.332C>T ENSP00000265277.5:p.Ser111Phe
ENST00000369452.8:c.332C>T ENSP00000358464.4:p.Ser111Phe
ENST00000489390.1:n.56-35725C>T
ENST00000489783.1:n.710C>T
NM_001269039.1:c.332C>T NP_001255968.1:p.Ser111Phe
NM_007373.3:c.332C>T , LRG_753t1:c.332C>T NP_031399.2:p.Ser111Phe
XM_011540216.1:c.-380-20938C>T XP_011538518.1:n.-380-20938C>T
NM_001269039.2:c.332C>T NP_001255968.1:p.Ser111Phe
NM_001324336.1:c.332C>T NP_001311265.1:p.Ser111Phe
NM_001324337.1:c.332C>T NP_001311266.1:p.Ser111Phe
NR_136749.1:n.116-20938C>T
NM_007373.4:c.332C>T MANE Select NP_031399.2:p.Ser111Phe
NM_001269039.3:c.332C>T NP_001255968.1:p.Ser111Phe
NM_001324336.2:c.332C>T NP_001311265.1:p.Ser111Phe
NM_001324337.2:c.332C>T NP_001311266.1:p.Ser111Phe
NR_136749.2:n.55-20938C>T
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