Canonical Allele Identifier: CA5818010

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs747172401
• ExAC: 11:2170319 C / CT
• gnomAD v2: 11-2170319-C-CT
• gnomAD v4: 11-2149089-C-CT
• MyVariant Identifiers: chr11:g.2170321_2170322insT (hg19) ; chr11:g.2170319_2170320insT (hg19) ; chr11:g.2149089_2149090insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149093dup , CM000673.2:g.2149093dup	GRCh38
NC_000011.9:g.2170323dup , CM000673.1:g.2170323dup	GRCh37
NC_000011.8:g.2126899dup	NCBI36
NG_008849.1:g.5514dup
NG_050578.1:g.17120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-249+36dup (IGF2)	ENSP00000511998.1:n.-249+36dup
ENST00000643349.2:c.254+36dup	ENSP00000495715.1:n.254+36dup
ENST00000695541.1:c.-249+36dup (IGF2)	ENSP00000511997.1:n.-249+36dup
ENST00000481781.2:n.345+36dup
ENST00000643349.1:c.254+36dup	ENSP00000495715.1:n.254+36dup
ENST00000356578.8:c.407+36dup (INS-IGF2)	ENSP00000348986.4:n.407+36dup
ENST00000397270.1:c.407+36dup (INS-IGF2)	ENSP00000380440.1:n.407+36dup
ENST00000476874.1:n.326dup (INS-IGF2)
ENST00000481781.1:n.612+36dup (INS-IGF2)
NM_001007139.5:c.-249+36dup (IGF2)	NP_001007140.2:n.-249+36dup
NM_001042376.2:c.407+36dup (INS-IGF2)	NP_001035835.1:n.407+36dup
NR_003512.3:n.466+36dup (INS-IGF2)
NM_001042376.3:c.407+36dup (INS-IGF2)	NP_001035835.1:n.407+36dup
NR_003512.4:n.466+36dup (INS-IGF2)
NM_001007139.6:c.-249+36dup (IGF2)	NP_001007140.2:n.-249+36dup