Canonical Allele Identifier: CA934421611
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1860130735
gnomAD v3: 11-2148758-ACT-A
gnomAD v4: 11-2148758-ACT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148761_2148762del , CM000673.2:g.2148761_2148762del GRCh38
NC_000011.9:g.2169991_2169992del , CM000673.1:g.2169991_2169992del GRCh37
NC_000011.8:g.2126567_2126568del NCBI36
NG_008849.1:g.5844_5845del
NG_050578.1:g.17450_17451del

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+366_-249+367del (IGF2) ENSP00000511998.1:n.-249+366_-249+367del
ENST00000643349.2:c.254+366_254+367del ENSP00000495715.1:n.254+366_254+367del
ENST00000695541.1:c.-249+366_-249+367del (IGF2) ENSP00000511997.1:n.-249+366_-249+367del
ENST00000481781.2:n.345+366_345+367del
ENST00000643349.1:c.254+366_254+367del ENSP00000495715.1:n.254+366_254+367del
ENST00000356578.8:c.407+366_407+367del (INS-IGF2) ENSP00000348986.4:n.407+366_407+367del
ENST00000397270.1:c.407+366_407+367del (INS-IGF2) ENSP00000380440.1:n.407+366_407+367del
ENST00000481781.1:n.612+366_612+367del (INS-IGF2)
NM_001007139.5:c.-249+366_-249+367del (IGF2) NP_001007140.2:n.-249+366_-249+367del
NM_001042376.2:c.407+366_407+367del (INS-IGF2) NP_001035835.1:n.407+366_407+367del
NR_003512.3:n.466+366_466+367del (INS-IGF2)
NM_001042376.3:c.407+366_407+367del (INS-IGF2) NP_001035835.1:n.407+366_407+367del
NR_003512.4:n.466+366_466+367del (INS-IGF2)
NM_001007139.6:c.-249+366_-249+367del (IGF2) NP_001007140.2:n.-249+366_-249+367del
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