Canonical Allele Identifier: CA934421778
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1860177738
gnomAD v3: 11-2149348-G-A
gnomAD v4: 11-2149348-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149348G>A , CM000673.2:g.2149348G>A GRCh38
NC_000011.9:g.2170578G>A , CM000673.1:g.2170578G>A GRCh37
NC_000011.8:g.2127154G>A NCBI36
NG_008849.1:g.5256C>T
NG_050578.1:g.16862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-468-3C>T (IGF2) ENSP00000511998.1:n.-468-3C>T
ENST00000643349.2:c.32C>T ENSP00000495715.1:p.Pro11Leu
ENST00000695541.1:c.-468-3C>T (IGF2) ENSP00000511997.1:n.-468-3C>T
ENST00000481781.2:n.126-3C>T
ENST00000643349.1:c.32C>T ENSP00000495715.1:p.Pro11Leu
ENST00000356578.8:c.188-3C>T (INS-IGF2) ENSP00000348986.4:n.188-3C>T
ENST00000397270.1:c.188-3C>T (INS-IGF2) ENSP00000380440.1:n.188-3C>T
ENST00000476874.1:n.71-3C>T (INS-IGF2)
ENST00000481781.1:n.393-3C>T (INS-IGF2)
NM_001007139.5:c.-471C>T (IGF2) NP_001007140.2:n.-471C>T
NM_001042376.2:c.188-3C>T (INS-IGF2) NP_001035835.1:n.188-3C>T
NR_003512.3:n.247-3C>T (INS-IGF2)
NM_001042376.3:c.188-3C>T (INS-IGF2) NP_001035835.1:n.188-3C>T
NR_003512.4:n.247-3C>T (INS-IGF2)
NM_001007139.6:c.-471C>T (IGF2) NP_001007140.2:n.-471C>T