Canonical Allele Identifier: CA5689613
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 298861
ClinVar RCV Id: RCV000275082 RCV001546753 RCV002059521
dbSNP Id: rs370351651
ExAC: 10:112724833 GATT / G
gnomAD v2: 10-112724833-GATT-G
gnomAD v3: 10-110965075-GATT-G
gnomAD v4: 10-110965075-GATT-G
MyVariant Identifiers: chr10:g.112724843_112724845del (hg19) chr10:g.112724834_112724836del (hg19) chr10:g.110965085_110965087del (hg38) chr10:g.110965076_110965078del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110965085_110965087del , CM000672.2:g.110965085_110965087del GRCh38
NC_000010.10:g.112724843_112724845del , CM000672.1:g.112724843_112724845del GRCh37
NC_000010.9:g.112714833_112714835del NCBI36
NG_028922.1:g.50543_50545del , LRG_753:g.50543_50545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.703+24_703+26del ENSP00000265277.5:n.703+24_703+26del
ENST00000451838.2:c.-242-35330_-242-35328del ENSP00000408275.2:n.-242-35330_-242-35328del
ENST00000480155.2:n.939+24_939+26del
ENST00000685059.1:c.703+24_703+26del ENSP00000510210.1:n.703+24_703+26del
ENST00000685613.1:c.703+24_703+26del ENSP00000510564.1:n.703+24_703+26del
ENST00000687592.1:n.1002+24_1002+26del
ENST00000688928.1:c.703+24_703+26del ENSP00000509273.1:n.703+24_703+26del
ENST00000689118.1:c.703+24_703+26del ENSP00000510554.1:n.703+24_703+26del
ENST00000689300.1:c.703+24_703+26del ENSP00000510639.1:n.703+24_703+26del
ENST00000689997.1:c.-380-20543_-380-20541del ENSP00000510700.1:n.-380-20543_-380-20541del
ENST00000691151.1:n.1019_1021del
ENST00000691369.1:c.703+24_703+26del ENSP00000509754.1:n.703+24_703+26del
ENST00000691441.1:c.703+24_703+26del ENSP00000509686.1:n.703+24_703+26del
ENST00000691903.1:c.703+24_703+26del ENSP00000510314.1:n.703+24_703+26del
ENST00000692776.1:c.703+24_703+26del ENSP00000508524.1:n.703+24_703+26del
ENST00000369452.9:c.703+24_703+26del MANE Select ENSP00000358464.5:n.703+24_703+26del
ENST00000265277.9:c.703+24_703+26del ENSP00000265277.5:n.703+24_703+26del
ENST00000369452.8:c.703+24_703+26del ENSP00000358464.4:n.703+24_703+26del
ENST00000451838.1:c.211+24_211+26del ENSP00000408275.1:n.211+24_211+26del
ENST00000489390.1:n.56-35330_56-35328del
ENST00000497305.1:n.30+24_30+26del
NM_001269039.1:c.703+24_703+26del NP_001255968.1:n.703+24_703+26del
NM_007373.3:c.703+24_703+26del , LRG_753t1:c.703+24_703+26del NP_031399.2:n.703+24_703+26del
XM_011540216.1:c.-380-20543_-380-20541del XP_011538518.1:n.-380-20543_-380-20541del
NM_001269039.2:c.703+24_703+26del NP_001255968.1:n.703+24_703+26del
NM_001324336.1:c.703+24_703+26del NP_001311265.1:n.703+24_703+26del
NM_001324337.1:c.703+24_703+26del NP_001311266.1:n.703+24_703+26del
NR_136749.1:n.116-20543_116-20541del
NM_007373.4:c.703+24_703+26del MANE Select NP_031399.2:n.703+24_703+26del
NM_001269039.3:c.703+24_703+26del NP_001255968.1:n.703+24_703+26del
NM_001324336.2:c.703+24_703+26del NP_001311265.1:n.703+24_703+26del
NM_001324337.2:c.703+24_703+26del NP_001311266.1:n.703+24_703+26del
NR_136749.2:n.55-20543_55-20541del
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