Canonical Allele Identifier: CA471507926
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1123787
ClinVar RCV Id: RCV001454931
dbSNP Id: rs1847639079
gnomAD v3: 10-110964677-T-C
gnomAD v4: 10-110964677-T-C
MyVariant Identifiers: chr10:g.112724435T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110964677T>C , CM000672.2:g.110964677T>C GRCh38
NC_000010.10:g.112724435T>C , CM000672.1:g.112724435T>C GRCh37
NC_000010.9:g.112714425T>C NCBI36
NG_028922.1:g.50135T>C , LRG_753:g.50135T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.319T>C ENSP00000265277.5:p.Leu107=
ENST00000451838.2:c.-242-35738T>C ENSP00000408275.2:n.-242-35738T>C
ENST00000480155.2:n.555T>C
ENST00000685059.1:c.319T>C ENSP00000510210.1:p.Leu107=
ENST00000685613.1:c.319T>C ENSP00000510564.1:p.Leu107=
ENST00000687592.1:n.618T>C
ENST00000688928.1:c.319T>C ENSP00000509273.1:p.Leu107=
ENST00000689118.1:c.319T>C ENSP00000510554.1:p.Leu107=
ENST00000689300.1:c.319T>C ENSP00000510639.1:p.Leu107=
ENST00000689997.1:c.-380-20951T>C ENSP00000510700.1:n.-380-20951T>C
ENST00000691151.1:n.611T>C
ENST00000691369.1:c.319T>C ENSP00000509754.1:p.Leu107=
ENST00000691441.1:c.319T>C ENSP00000509686.1:p.Leu107=
ENST00000691903.1:c.319T>C ENSP00000510314.1:p.Leu107=
ENST00000692776.1:c.319T>C ENSP00000508524.1:p.Leu107=
ENST00000369452.9:c.319T>C MANE Select ENSP00000358464.5:p.Leu107=
ENST00000265277.9:c.319T>C ENSP00000265277.5:p.Leu107=
ENST00000369452.8:c.319T>C ENSP00000358464.4:p.Leu107=
ENST00000489390.1:n.56-35738T>C
ENST00000489783.1:n.697T>C
NM_001269039.1:c.319T>C NP_001255968.1:p.Leu107=
NM_007373.3:c.319T>C , LRG_753t1:c.319T>C NP_031399.2:p.Leu107=
XM_011540216.1:c.-380-20951T>C XP_011538518.1:n.-380-20951T>C
NM_001269039.2:c.319T>C NP_001255968.1:p.Leu107=
NM_001324336.1:c.319T>C NP_001311265.1:p.Leu107=
NM_001324337.1:c.319T>C NP_001311266.1:p.Leu107=
NR_136749.1:n.116-20951T>C
NM_007373.4:c.319T>C MANE Select NP_031399.2:p.Leu107=
NM_001269039.3:c.319T>C NP_001255968.1:p.Leu107=
NM_001324336.2:c.319T>C NP_001311265.1:p.Leu107=
NM_001324337.2:c.319T>C NP_001311266.1:p.Leu107=
NR_136749.2:n.55-20951T>C
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