Canonical Allele Identifier: CA5818026

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs749164348
• ExAC: 11:2170394 A / G
• gnomAD v4: 11-2149164-A-G
• MyVariant Identifiers: chr11:g.2170394A>G (hg19) ; chr11:g.2149164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149164A>G , CM000673.2:g.2149164A>G	GRCh38
NC_000011.9:g.2170394A>G , CM000673.1:g.2170394A>G	GRCh37
NC_000011.8:g.2126970A>G	NCBI36
NG_008849.1:g.5440T>C
NG_050578.1:g.17046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-287T>C (IGF2)	ENSP00000511998.1:n.-287T>C
ENST00000643349.2:c.216T>C	ENSP00000495715.1:p.Cys72=
ENST00000695541.1:c.-287T>C (IGF2)	ENSP00000511997.1:n.-287T>C
ENST00000481781.2:n.307T>C
ENST00000643349.1:c.216T>C	ENSP00000495715.1:p.Cys72=
ENST00000356578.8:c.369T>C (INS-IGF2)	ENSP00000348986.4:p.Cys123=
ENST00000397270.1:c.369T>C (INS-IGF2)	ENSP00000380440.1:p.Cys123=
ENST00000476874.1:n.252T>C (INS-IGF2)
ENST00000481781.1:n.574T>C (INS-IGF2)
NM_001007139.5:c.-287T>C (IGF2)	NP_001007140.2:n.-287T>C
NM_001042376.2:c.369T>C (INS-IGF2)	NP_001035835.1:p.Cys123=
NR_003512.3:n.428T>C (INS-IGF2)
NM_001042376.3:c.369T>C (INS-IGF2)	NP_001035835.1:p.Cys123=
NR_003512.4:n.428T>C (INS-IGF2)
NM_001007139.6:c.-287T>C (IGF2)	NP_001007140.2:n.-287T>C