Canonical Allele Identifier: CA5818068

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs758114081
• ExAC: 11:2170585 C / G
• gnomAD v2: 11-2170585-C-G
• gnomAD v4: 11-2149355-C-G
• MyVariant Identifiers: chr11:g.2170585C>G (hg19) ; chr11:g.2149355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149355C>G , CM000673.2:g.2149355C>G	GRCh38
NC_000011.9:g.2170585C>G , CM000673.1:g.2170585C>G	GRCh37
NC_000011.8:g.2127161C>G	NCBI36
NG_008849.1:g.5249G>C
NG_050578.1:g.16855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-468-10G>C (IGF2)	ENSP00000511998.1:n.-468-10G>C
ENST00000643349.2:c.25G>C	ENSP00000495715.1:p.Val9Leu
ENST00000695541.1:c.-468-10G>C (IGF2)	ENSP00000511997.1:n.-468-10G>C
ENST00000481781.2:n.126-10G>C
ENST00000643349.1:c.25G>C	ENSP00000495715.1:p.Val9Leu
ENST00000356578.8:c.188-10G>C (INS-IGF2)	ENSP00000348986.4:n.188-10G>C
ENST00000397270.1:c.188-10G>C (INS-IGF2)	ENSP00000380440.1:n.188-10G>C
ENST00000476874.1:n.71-10G>C (INS-IGF2)
ENST00000481781.1:n.393-10G>C (INS-IGF2)
NM_001007139.5:c.-478G>C (IGF2)	NP_001007140.2:n.-478G>C
NM_001042376.2:c.188-10G>C (INS-IGF2)	NP_001035835.1:n.188-10G>C
NR_003512.3:n.247-10G>C (INS-IGF2)
NM_001042376.3:c.188-10G>C (INS-IGF2)	NP_001035835.1:n.188-10G>C
NR_003512.4:n.247-10G>C (INS-IGF2)
NM_001007139.6:c.-478G>C (IGF2)	NP_001007140.2:n.-478G>C