Canonical Allele Identifier: CA472029583
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs765050882
gnomAD v2: 11-2170574-G-C
gnomAD v3: 11-2149344-G-C
gnomAD v4: 11-2149344-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149344G>C , CM000673.2:g.2149344G>C GRCh38
NC_000011.9:g.2170574G>C , CM000673.1:g.2170574G>C GRCh37
NC_000011.8:g.2127150G>C NCBI36
NG_008849.1:g.5260C>G
NG_050578.1:g.16866C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-467C>G (IGF2) ENSP00000511998.1:n.-467C>G
ENST00000643349.2:c.36C>G ENSP00000495715.1:p.Ala12=
ENST00000695541.1:c.-467C>G (IGF2) ENSP00000511997.1:n.-467C>G
ENST00000481781.2:n.127C>G
ENST00000643349.1:c.36C>G ENSP00000495715.1:p.Ala12=
ENST00000356578.8:c.189C>G (INS-IGF2) ENSP00000348986.4:p.Ala63=
ENST00000397270.1:c.189C>G (INS-IGF2) ENSP00000380440.1:p.Ala63=
ENST00000476874.1:n.72C>G (INS-IGF2)
ENST00000481781.1:n.394C>G (INS-IGF2)
NM_001007139.5:c.-467C>G (IGF2) NP_001007140.2:n.-467C>G
NM_001042376.2:c.189C>G (INS-IGF2) NP_001035835.1:p.Ala63=
NR_003512.3:n.248C>G (INS-IGF2)
NM_001042376.3:c.189C>G (INS-IGF2) NP_001035835.1:p.Ala63=
NR_003512.4:n.248C>G (INS-IGF2)
NM_001007139.6:c.-467C>G (IGF2) NP_001007140.2:n.-467C>G