Canonical Allele Identifier: CA5818030
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs543179100
gnomAD v2: 11-2170401-A-G
gnomAD v3: 11-2149171-A-G
gnomAD v4: 11-2149171-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149171A>G , CM000673.2:g.2149171A>G GRCh38
NC_000011.9:g.2170401A>G , CM000673.1:g.2170401A>G GRCh37
NC_000011.8:g.2126977A>G NCBI36
NG_008849.1:g.5433T>C
NG_050578.1:g.17039T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-294T>C (IGF2) ENSP00000511998.1:n.-294T>C
ENST00000643349.2:c.209T>C ENSP00000495715.1:p.Ile70Thr
ENST00000695541.1:c.-294T>C (IGF2) ENSP00000511997.1:n.-294T>C
ENST00000481781.2:n.300T>C
ENST00000643349.1:c.209T>C ENSP00000495715.1:p.Ile70Thr
ENST00000356578.8:c.362T>C (INS-IGF2) ENSP00000348986.4:p.Ile121Thr
ENST00000397270.1:c.362T>C (INS-IGF2) ENSP00000380440.1:p.Ile121Thr
ENST00000476874.1:n.245T>C (INS-IGF2)
ENST00000481781.1:n.567T>C (INS-IGF2)
NM_001007139.5:c.-294T>C (IGF2) NP_001007140.2:n.-294T>C
NM_001042376.2:c.362T>C (INS-IGF2) NP_001035835.1:p.Ile121Thr
NR_003512.3:n.421T>C (INS-IGF2)
NM_001042376.3:c.362T>C (INS-IGF2) NP_001035835.1:p.Ile121Thr
NR_003512.4:n.421T>C (INS-IGF2)
NM_001007139.6:c.-294T>C (IGF2) NP_001007140.2:n.-294T>C