Canonical Allele Identifier: CA597431655

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs1228641262
• gnomAD v2: 11-2170519-TG-T
• gnomAD v4: 11-2149289-TG-T
• MyVariant Identifiers: chr11:g.2170520del (hg19) ; chr11:g.2149290del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149291del , CM000673.2:g.2149291del	GRCh38
NC_000011.9:g.2170521del , CM000673.1:g.2170521del	GRCh37
NC_000011.8:g.2127097del	NCBI36
NG_008849.1:g.5314del
NG_050578.1:g.16920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-413del (IGF2)	ENSP00000511998.1:n.-413del
ENST00000643349.2:c.90del	ENSP00000495715.1:p.Thr31GlnfsTer10
ENST00000695541.1:c.-413del (IGF2)	ENSP00000511997.1:n.-413del
ENST00000481781.2:n.181del
ENST00000643349.1:c.90del	ENSP00000495715.1:p.Thr31GlnfsTer10
ENST00000356578.8:c.243del (INS-IGF2)	ENSP00000348986.4:p.Thr82GlnfsTer10
ENST00000397270.1:c.243del (INS-IGF2)	ENSP00000380440.1:p.Thr82GlnfsTer10
ENST00000476874.1:n.126del (INS-IGF2)
ENST00000481781.1:n.448del (INS-IGF2)
NM_001007139.5:c.-413del (IGF2)	NP_001007140.2:n.-413del
NM_001042376.2:c.243del (INS-IGF2)	NP_001035835.1:p.Thr82GlnfsTer10
NR_003512.3:n.302del (INS-IGF2)
NM_001042376.3:c.243del (INS-IGF2)	NP_001035835.1:p.Thr82GlnfsTer10
NR_003512.4:n.302del (INS-IGF2)
NM_001007139.6:c.-413del (IGF2)	NP_001007140.2:n.-413del