Canonical Allele Identifier: CA379118777
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2149333-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149333G>A , CM000673.2:g.2149333G>A GRCh38
NC_000011.9:g.2170563G>A , CM000673.1:g.2170563G>A GRCh37
NC_000011.8:g.2127139G>A NCBI36
NG_008849.1:g.5271C>T
NG_050578.1:g.16877C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-456C>T (IGF2) ENSP00000511998.1:n.-456C>T
ENST00000643349.2:c.47C>T ENSP00000495715.1:p.Ser16Phe
ENST00000695541.1:c.-456C>T (IGF2) ENSP00000511997.1:n.-456C>T
ENST00000481781.2:n.138C>T
ENST00000643349.1:c.47C>T ENSP00000495715.1:p.Ser16Phe
ENST00000356578.8:c.200C>T (INS-IGF2) ENSP00000348986.4:p.Ser67Phe
ENST00000397270.1:c.200C>T (INS-IGF2) ENSP00000380440.1:p.Ser67Phe
ENST00000476874.1:n.83C>T (INS-IGF2)
ENST00000481781.1:n.405C>T (INS-IGF2)
NM_001007139.5:c.-456C>T (IGF2) NP_001007140.2:n.-456C>T
NM_001042376.2:c.200C>T (INS-IGF2) NP_001035835.1:p.Ser67Phe
NR_003512.3:n.259C>T (INS-IGF2)
NM_001042376.3:c.200C>T (INS-IGF2) NP_001035835.1:p.Ser67Phe
NR_003512.4:n.259C>T (INS-IGF2)
NM_001007139.6:c.-456C>T (IGF2) NP_001007140.2:n.-456C>T