Canonical Allele Identifier: CA2610906554
Gene: SHOC2 HGNC NCBI

Linked Data

gnomAD v4: 10-110965063-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110965063_110965064insG , CM000672.2:g.110965063_110965064insG GRCh38
NC_000010.10:g.112724821_112724822insG , CM000672.1:g.112724821_112724822insG GRCh37
NC_000010.9:g.112714811_112714812insG NCBI36
NG_028922.1:g.50521_50522insG , LRG_753:g.50521_50522insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.703+2_703+3insG ENSP00000265277.5:n.703+2_703+3insG
ENST00000451838.2:c.-242-35352_-242-35351insG ENSP00000408275.2:n.-242-35352_-242-35351insG
ENST00000480155.2:n.939+2_939+3insG
ENST00000685059.1:c.703+2_703+3insG ENSP00000510210.1:n.703+2_703+3insG
ENST00000685613.1:c.703+2_703+3insG ENSP00000510564.1:n.703+2_703+3insG
ENST00000687592.1:n.1002+2_1002+3insG
ENST00000688928.1:c.703+2_703+3insG ENSP00000509273.1:n.703+2_703+3insG
ENST00000689118.1:c.703+2_703+3insG ENSP00000510554.1:n.703+2_703+3insG
ENST00000689300.1:c.703+2_703+3insG ENSP00000510639.1:n.703+2_703+3insG
ENST00000689997.1:c.-380-20565_-380-20564insG ENSP00000510700.1:n.-380-20565_-380-20564insG
ENST00000691151.1:n.997_998insG
ENST00000691369.1:c.703+2_703+3insG ENSP00000509754.1:n.703+2_703+3insG
ENST00000691441.1:c.703+2_703+3insG ENSP00000509686.1:n.703+2_703+3insG
ENST00000691903.1:c.703+2_703+3insG ENSP00000510314.1:n.703+2_703+3insG
ENST00000692776.1:c.703+2_703+3insG ENSP00000508524.1:n.703+2_703+3insG
ENST00000369452.9:c.703+2_703+3insG MANE Select ENSP00000358464.5:n.703+2_703+3insG
ENST00000265277.9:c.703+2_703+3insG ENSP00000265277.5:n.703+2_703+3insG
ENST00000369452.8:c.703+2_703+3insG ENSP00000358464.4:n.703+2_703+3insG
ENST00000451838.1:c.211+2_211+3insG ENSP00000408275.1:n.211+2_211+3insG
ENST00000489390.1:n.56-35352_56-35351insG
ENST00000497305.1:n.30+2_30+3insG
NM_001269039.1:c.703+2_703+3insG NP_001255968.1:n.703+2_703+3insG
NM_007373.3:c.703+2_703+3insG , LRG_753t1:c.703+2_703+3insG NP_031399.2:n.703+2_703+3insG
XM_011540216.1:c.-380-20565_-380-20564insG XP_011538518.1:n.-380-20565_-380-20564insG
NM_001269039.2:c.703+2_703+3insG NP_001255968.1:n.703+2_703+3insG
NM_001324336.1:c.703+2_703+3insG NP_001311265.1:n.703+2_703+3insG
NM_001324337.1:c.703+2_703+3insG NP_001311266.1:n.703+2_703+3insG
NR_136749.1:n.116-20565_116-20564insG
NM_007373.4:c.703+2_703+3insG MANE Select NP_031399.2:n.703+2_703+3insG
NM_001269039.3:c.703+2_703+3insG NP_001255968.1:n.703+2_703+3insG
NM_001324336.2:c.703+2_703+3insG NP_001311265.1:n.703+2_703+3insG
NM_001324337.2:c.703+2_703+3insG NP_001311266.1:n.703+2_703+3insG
NR_136749.2:n.55-20565_55-20564insG
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