Canonical Allele Identifier: CA216262505

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs911983083
• gnomAD v4: 11-2149383-A-AAT
• MyVariant Identifiers: chr11:g.2170613_2170614insAT (hg19) ; chr11:g.2149383_2149384insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149385_2149386dup , CM000673.2:g.2149385_2149386dup	GRCh38
NC_000011.9:g.2170615_2170616dup , CM000673.1:g.2170615_2170616dup	GRCh37
NC_000011.8:g.2127191_2127192dup	NCBI36
NG_008849.1:g.5219_5220dup
NG_050578.1:g.16825_16826dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-468-40_-468-39dup (IGF2)	ENSP00000511998.1:n.-468-40_-468-39dup
ENST00000643349.2:c.-6_-5dup	ENSP00000495715.1:n.-6_-5dup
ENST00000695541.1:c.-468-40_-468-39dup (IGF2)	ENSP00000511997.1:n.-468-40_-468-39dup
ENST00000481781.2:n.126-40_126-39dup
ENST00000643349.1:c.-6_-5dup	ENSP00000495715.1:n.-6_-5dup
ENST00000356578.8:c.188-40_188-39dup (INS-IGF2)	ENSP00000348986.4:n.188-40_188-39dup
ENST00000397270.1:c.188-40_188-39dup (INS-IGF2)	ENSP00000380440.1:n.188-40_188-39dup
ENST00000476874.1:n.71-40_71-39dup (INS-IGF2)
ENST00000481781.1:n.393-40_393-39dup (INS-IGF2)
NM_001007139.5:c.-508_-507dup (IGF2)	NP_001007140.2:n.-508_-507dup
NM_001042376.2:c.188-40_188-39dup (INS-IGF2)	NP_001035835.1:n.188-40_188-39dup
NR_003512.3:n.247-40_247-39dup (INS-IGF2)
NM_001042376.3:c.188-40_188-39dup (INS-IGF2)	NP_001035835.1:n.188-40_188-39dup
NR_003512.4:n.247-40_247-39dup (INS-IGF2)
NM_001007139.6:c.-508_-507dup (IGF2)	NP_001007140.2:n.-508_-507dup