Canonical Allele Identifier: CA674546405
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1293437352
gnomAD v3: 11-2148674-C-A
gnomAD v4: 11-2148674-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148674C>A , CM000673.2:g.2148674C>A GRCh38
NC_000011.9:g.2169904C>A , CM000673.1:g.2169904C>A GRCh37
NC_000011.8:g.2126480C>A NCBI36
NG_008849.1:g.5930G>T
NG_050578.1:g.17536G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-249+452G>T (IGF2) ENSP00000511998.1:n.-249+452G>T
ENST00000643349.2:c.254+452G>T ENSP00000495715.1:n.254+452G>T
ENST00000695541.1:c.-249+452G>T (IGF2) ENSP00000511997.1:n.-249+452G>T
ENST00000481781.2:n.345+452G>T
ENST00000643349.1:c.254+452G>T ENSP00000495715.1:n.254+452G>T
ENST00000356578.8:c.407+452G>T (INS-IGF2) ENSP00000348986.4:n.407+452G>T
ENST00000397270.1:c.407+452G>T (INS-IGF2) ENSP00000380440.1:n.407+452G>T
ENST00000481781.1:n.612+452G>T (INS-IGF2)
NM_001007139.5:c.-249+452G>T (IGF2) NP_001007140.2:n.-249+452G>T
NM_001042376.2:c.407+452G>T (INS-IGF2) NP_001035835.1:n.407+452G>T
NR_003512.3:n.466+452G>T (INS-IGF2)
NM_001042376.3:c.407+452G>T (INS-IGF2) NP_001035835.1:n.407+452G>T
NR_003512.4:n.466+452G>T (INS-IGF2)
NM_001007139.6:c.-249+452G>T (IGF2) NP_001007140.2:n.-249+452G>T