Canonical Allele Identifier: CA379118355
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs202124833
gnomAD v3: 11-2149213-C-G
gnomAD v4: 11-2149213-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149213C>G , CM000673.2:g.2149213C>G GRCh38
NC_000011.9:g.2170443C>G , CM000673.1:g.2170443C>G GRCh37
NC_000011.8:g.2127019C>G NCBI36
NG_008849.1:g.5391G>C
NG_050578.1:g.16997G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-336G>C (IGF2) ENSP00000511998.1:n.-336G>C
ENST00000643349.2:c.167G>C ENSP00000495715.1:p.Arg56Pro
ENST00000695541.1:c.-336G>C (IGF2) ENSP00000511997.1:n.-336G>C
ENST00000481781.2:n.258G>C
ENST00000643349.1:c.167G>C ENSP00000495715.1:p.Arg56Pro
ENST00000356578.8:c.320G>C (INS-IGF2) ENSP00000348986.4:p.Arg107Pro
ENST00000397270.1:c.320G>C (INS-IGF2) ENSP00000380440.1:p.Arg107Pro
ENST00000476874.1:n.203G>C (INS-IGF2)
ENST00000481781.1:n.525G>C (INS-IGF2)
NM_001007139.5:c.-336G>C (IGF2) NP_001007140.2:n.-336G>C
NM_001042376.2:c.320G>C (INS-IGF2) NP_001035835.1:p.Arg107Pro
NR_003512.3:n.379G>C (INS-IGF2)
NM_001042376.3:c.320G>C (INS-IGF2) NP_001035835.1:p.Arg107Pro
NR_003512.4:n.379G>C (INS-IGF2)
NM_001007139.6:c.-336G>C (IGF2) NP_001007140.2:n.-336G>C