Canonical Allele Identifier: CA912966497
Gene: SHOC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112724750del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110964996del , CM000672.2:g.110964996del GRCh38
NC_000010.10:g.112724754del , CM000672.1:g.112724754del GRCh37
NC_000010.9:g.112714744del NCBI36
NG_028922.1:g.50454del , LRG_753:g.50454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.638del ENSP00000265277.5:p.Asn213ThrfsTer28
ENST00000451838.2:c.-242-35419del ENSP00000408275.2:n.-242-35419del
ENST00000480155.2:n.874del
ENST00000685059.1:c.638del ENSP00000510210.1:p.Asn213ThrfsTer?
ENST00000685613.1:c.638del ENSP00000510564.1:p.Asn213ThrfsTer?
ENST00000687592.1:n.937del
ENST00000688928.1:c.638del ENSP00000509273.1:p.Asn213ThrfsTer?
ENST00000689118.1:c.638del ENSP00000510554.1:p.Asn213ThrfsTer?
ENST00000689300.1:c.638del ENSP00000510639.1:p.Asn213ThrfsTer?
ENST00000689997.1:c.-380-20632del ENSP00000510700.1:n.-380-20632del
ENST00000691151.1:n.930del
ENST00000691369.1:c.638del ENSP00000509754.1:p.Asn213ThrfsTer?
ENST00000691441.1:c.638del ENSP00000509686.1:p.Asn213ThrfsTer?
ENST00000691903.1:c.638del ENSP00000510314.1:p.Asn213ThrfsTer?
ENST00000692776.1:c.638del ENSP00000508524.1:p.Asn213ThrfsTer?
ENST00000369452.9:c.638del MANE Select ENSP00000358464.5:p.Asn213ThrfsTer?
ENST00000265277.9:c.638del ENSP00000265277.5:p.Asn213ThrfsTer28
ENST00000369452.8:c.638del ENSP00000358464.4:p.Asn213ThrfsTer?
ENST00000451838.1:c.146del ENSP00000408275.1:p.Asn49ThrfsTer28
ENST00000489390.1:n.56-35419del
NM_001269039.1:c.638del NP_001255968.1:p.Asn213ThrfsTer28
NM_007373.3:c.638del , LRG_753t1:c.638del NP_031399.2:p.Asn213ThrfsTer?
XM_011540216.1:c.-380-20632del XP_011538518.1:n.-380-20632del
NM_001269039.2:c.638del NP_001255968.1:p.Asn213ThrfsTer28
NM_001324336.1:c.638del NP_001311265.1:p.Asn213ThrfsTer?
NM_001324337.1:c.638del NP_001311266.1:p.Asn213ThrfsTer?
NR_136749.1:n.116-20632del
NM_007373.4:c.638del MANE Select NP_031399.2:p.Asn213ThrfsTer?
NM_001269039.3:c.638del NP_001255968.1:p.Asn213ThrfsTer28
NM_001324336.2:c.638del NP_001311265.1:p.Asn213ThrfsTer?
NM_001324337.2:c.638del NP_001311266.1:p.Asn213ThrfsTer?
NR_136749.2:n.55-20632del
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