Canonical Allele Identifier: CA5818025

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs779818488
• ExAC: 11:2170393 G / A
• gnomAD v2: 11-2170393-G-A
• gnomAD v4: 11-2149163-G-A
• MyVariant Identifiers: chr11:g.2170393G>A (hg19) ; chr11:g.2149163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149163G>A , CM000673.2:g.2149163G>A	GRCh38
NC_000011.9:g.2170393G>A , CM000673.1:g.2170393G>A	GRCh37
NC_000011.8:g.2126969G>A	NCBI36
NG_008849.1:g.5441C>T
NG_050578.1:g.17047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-286C>T (IGF2)	ENSP00000511998.1:n.-286C>T
ENST00000643349.2:c.217C>T	ENSP00000495715.1:p.Pro73Ser
ENST00000695541.1:c.-286C>T (IGF2)	ENSP00000511997.1:n.-286C>T
ENST00000481781.2:n.308C>T
ENST00000643349.1:c.217C>T	ENSP00000495715.1:p.Pro73Ser
ENST00000356578.8:c.370C>T (INS-IGF2)	ENSP00000348986.4:p.Pro124Ser
ENST00000397270.1:c.370C>T (INS-IGF2)	ENSP00000380440.1:p.Pro124Ser
ENST00000476874.1:n.253C>T (INS-IGF2)
ENST00000481781.1:n.575C>T (INS-IGF2)
NM_001007139.5:c.-286C>T (IGF2)	NP_001007140.2:n.-286C>T
NM_001042376.2:c.370C>T (INS-IGF2)	NP_001035835.1:p.Pro124Ser
NR_003512.3:n.429C>T (INS-IGF2)
NM_001042376.3:c.370C>T (INS-IGF2)	NP_001035835.1:p.Pro124Ser
NR_003512.4:n.429C>T (INS-IGF2)
NM_001007139.6:c.-286C>T (IGF2)	NP_001007140.2:n.-286C>T