Canonical Allele Identifier: CA5818070

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs756847403
• ExAC: 11:2170587 A / C
• gnomAD v2: 11-2170587-A-C
• MyVariant Identifiers: chr11:g.2170587A>C (hg19) ; chr11:g.2149357A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149357A>C , CM000673.2:g.2149357A>C	GRCh38
NC_000011.9:g.2170587A>C , CM000673.1:g.2170587A>C	GRCh37
NC_000011.8:g.2127163A>C	NCBI36
NG_008849.1:g.5247T>G
NG_050578.1:g.16853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-468-12T>G (IGF2)	ENSP00000511998.1:n.-468-12T>G
ENST00000643349.2:c.23T>G	ENSP00000495715.1:p.Phe8Cys
ENST00000695541.1:c.-468-12T>G (IGF2)	ENSP00000511997.1:n.-468-12T>G
ENST00000481781.2:n.126-12T>G
ENST00000643349.1:c.23T>G	ENSP00000495715.1:p.Phe8Cys
ENST00000356578.8:c.188-12T>G (INS-IGF2)	ENSP00000348986.4:n.188-12T>G
ENST00000397270.1:c.188-12T>G (INS-IGF2)	ENSP00000380440.1:n.188-12T>G
ENST00000476874.1:n.71-12T>G (INS-IGF2)
ENST00000481781.1:n.393-12T>G (INS-IGF2)
NM_001007139.5:c.-480T>G (IGF2)	NP_001007140.2:n.-480T>G
NM_001042376.2:c.188-12T>G (INS-IGF2)	NP_001035835.1:n.188-12T>G
NR_003512.3:n.247-12T>G (INS-IGF2)
NM_001042376.3:c.188-12T>G (INS-IGF2)	NP_001035835.1:n.188-12T>G
NR_003512.4:n.247-12T>G (INS-IGF2)
NM_001007139.6:c.-480T>G (IGF2)	NP_001007140.2:n.-480T>G