Canonical Allele Identifier: CA597087538
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1279378033
gnomAD v2: 11-2169989-CTCT-C
gnomAD v3: 11-2148759-CTCT-C
gnomAD v4: 11-2148759-CTCT-C
MyVariant Identifiers: chr11:g.2169990_2169992del (hg19) chr11:g.2148760_2148762del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148762_2148764del , CM000673.2:g.2148762_2148764del GRCh38
NC_000011.9:g.2169992_2169994del , CM000673.1:g.2169992_2169994del GRCh37
NC_000011.8:g.2126568_2126570del NCBI36
NG_008849.1:g.5842_5844del
NG_050578.1:g.17448_17450del

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+364_-249+366del (IGF2) ENSP00000511998.1:n.-249+364_-249+366del
ENST00000643349.2:c.254+364_254+366del ENSP00000495715.1:n.254+364_254+366del
ENST00000695541.1:c.-249+364_-249+366del (IGF2) ENSP00000511997.1:n.-249+364_-249+366del
ENST00000481781.2:n.345+364_345+366del
ENST00000643349.1:c.254+364_254+366del ENSP00000495715.1:n.254+364_254+366del
ENST00000356578.8:c.407+364_407+366del (INS-IGF2) ENSP00000348986.4:n.407+364_407+366del
ENST00000397270.1:c.407+364_407+366del (INS-IGF2) ENSP00000380440.1:n.407+364_407+366del
ENST00000481781.1:n.612+364_612+366del (INS-IGF2)
NM_001007139.5:c.-249+364_-249+366del (IGF2) NP_001007140.2:n.-249+364_-249+366del
NM_001042376.2:c.407+364_407+366del (INS-IGF2) NP_001035835.1:n.407+364_407+366del
NR_003512.3:n.466+364_466+366del (INS-IGF2)
NM_001042376.3:c.407+364_407+366del (INS-IGF2) NP_001035835.1:n.407+364_407+366del
NR_003512.4:n.466+364_466+366del (INS-IGF2)
NM_001007139.6:c.-249+364_-249+366del (IGF2) NP_001007140.2:n.-249+364_-249+366del
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