Canonical Allele Identifier: CA379118558
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2149279-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149279G>A , CM000673.2:g.2149279G>A GRCh38
NC_000011.9:g.2170509G>A , CM000673.1:g.2170509G>A GRCh37
NC_000011.8:g.2127085G>A NCBI36
NG_008849.1:g.5325C>T
NG_050578.1:g.16931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-402C>T (IGF2) ENSP00000511998.1:n.-402C>T
ENST00000643349.2:c.101C>T ENSP00000495715.1:p.Ala34Val
ENST00000695541.1:c.-402C>T (IGF2) ENSP00000511997.1:n.-402C>T
ENST00000481781.2:n.192C>T
ENST00000643349.1:c.101C>T ENSP00000495715.1:p.Ala34Val
ENST00000356578.8:c.254C>T (INS-IGF2) ENSP00000348986.4:p.Ala85Val
ENST00000397270.1:c.254C>T (INS-IGF2) ENSP00000380440.1:p.Ala85Val
ENST00000476874.1:n.137C>T (INS-IGF2)
ENST00000481781.1:n.459C>T (INS-IGF2)
NM_001007139.5:c.-402C>T (IGF2) NP_001007140.2:n.-402C>T
NM_001042376.2:c.254C>T (INS-IGF2) NP_001035835.1:p.Ala85Val
NR_003512.3:n.313C>T (INS-IGF2)
NM_001042376.3:c.254C>T (INS-IGF2) NP_001035835.1:p.Ala85Val
NR_003512.4:n.313C>T (INS-IGF2)
NM_001007139.6:c.-402C>T (IGF2) NP_001007140.2:n.-402C>T