Canonical Allele Identifier: CA2611974899
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2149367-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149367T>G , CM000673.2:g.2149367T>G GRCh38
NC_000011.9:g.2170597T>G , CM000673.1:g.2170597T>G GRCh37
NC_000011.8:g.2127173T>G NCBI36
NG_008849.1:g.5237A>C
NG_050578.1:g.16843A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-468-22A>C (IGF2) ENSP00000511998.1:n.-468-22A>C
ENST00000643349.2:c.13A>C ENSP00000495715.1:p.Lys5Gln
ENST00000695541.1:c.-468-22A>C (IGF2) ENSP00000511997.1:n.-468-22A>C
ENST00000481781.2:n.126-22A>C
ENST00000643349.1:c.13A>C ENSP00000495715.1:p.Lys5Gln
ENST00000356578.8:c.188-22A>C (INS-IGF2) ENSP00000348986.4:n.188-22A>C
ENST00000397270.1:c.188-22A>C (INS-IGF2) ENSP00000380440.1:n.188-22A>C
ENST00000476874.1:n.71-22A>C (INS-IGF2)
ENST00000481781.1:n.393-22A>C (INS-IGF2)
NM_001007139.5:c.-490A>C (IGF2) NP_001007140.2:n.-490A>C
NM_001042376.2:c.188-22A>C (INS-IGF2) NP_001035835.1:n.188-22A>C
NR_003512.3:n.247-22A>C (INS-IGF2)
NM_001042376.3:c.188-22A>C (INS-IGF2) NP_001035835.1:n.188-22A>C
NR_003512.4:n.247-22A>C (INS-IGF2)
NM_001007139.6:c.-490A>C (IGF2) NP_001007140.2:n.-490A>C