Canonical Allele Identifier: CA674546630
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1256601365
gnomAD v3: 11-2148900-T-C
gnomAD v4: 11-2148900-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148900T>C , CM000673.2:g.2148900T>C GRCh38
NC_000011.9:g.2170130T>C , CM000673.1:g.2170130T>C GRCh37
NC_000011.8:g.2126706T>C NCBI36
NG_008849.1:g.5704A>G
NG_050578.1:g.17310A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+226A>G (IGF2) ENSP00000511998.1:n.-249+226A>G
ENST00000643349.2:c.254+226A>G ENSP00000495715.1:n.254+226A>G
ENST00000695541.1:c.-249+226A>G (IGF2) ENSP00000511997.1:n.-249+226A>G
ENST00000481781.2:n.345+226A>G
ENST00000643349.1:c.254+226A>G ENSP00000495715.1:n.254+226A>G
ENST00000356578.8:c.407+226A>G (INS-IGF2) ENSP00000348986.4:n.407+226A>G
ENST00000397270.1:c.407+226A>G (INS-IGF2) ENSP00000380440.1:n.407+226A>G
ENST00000481781.1:n.612+226A>G (INS-IGF2)
NM_001007139.5:c.-249+226A>G (IGF2) NP_001007140.2:n.-249+226A>G
NM_001042376.2:c.407+226A>G (INS-IGF2) NP_001035835.1:n.407+226A>G
NR_003512.3:n.466+226A>G (INS-IGF2)
NM_001042376.3:c.407+226A>G (INS-IGF2) NP_001035835.1:n.407+226A>G
NR_003512.4:n.466+226A>G (INS-IGF2)
NM_001007139.6:c.-249+226A>G (IGF2) NP_001007140.2:n.-249+226A>G