Canonical Allele Identifier: CA597087549
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1438649018
gnomAD v2: 11-2170116-C-A
gnomAD v3: 11-2148886-C-A
gnomAD v4: 11-2148886-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148886C>A , CM000673.2:g.2148886C>A GRCh38
NC_000011.9:g.2170116C>A , CM000673.1:g.2170116C>A GRCh37
NC_000011.8:g.2126692C>A NCBI36
NG_008849.1:g.5718G>T
NG_050578.1:g.17324G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+240G>T (IGF2) ENSP00000511998.1:n.-249+240G>T
ENST00000643349.2:c.254+240G>T ENSP00000495715.1:n.254+240G>T
ENST00000695541.1:c.-249+240G>T (IGF2) ENSP00000511997.1:n.-249+240G>T
ENST00000481781.2:n.345+240G>T
ENST00000643349.1:c.254+240G>T ENSP00000495715.1:n.254+240G>T
ENST00000356578.8:c.407+240G>T (INS-IGF2) ENSP00000348986.4:n.407+240G>T
ENST00000397270.1:c.407+240G>T (INS-IGF2) ENSP00000380440.1:n.407+240G>T
ENST00000481781.1:n.612+240G>T (INS-IGF2)
NM_001007139.5:c.-249+240G>T (IGF2) NP_001007140.2:n.-249+240G>T
NM_001042376.2:c.407+240G>T (INS-IGF2) NP_001035835.1:n.407+240G>T
NR_003512.3:n.466+240G>T (INS-IGF2)
NM_001042376.3:c.407+240G>T (INS-IGF2) NP_001035835.1:n.407+240G>T
NR_003512.4:n.466+240G>T (INS-IGF2)
NM_001007139.6:c.-249+240G>T (IGF2) NP_001007140.2:n.-249+240G>T