Canonical Allele Identifier: CA597087553
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1467510799
gnomAD v2: 11-2170184-C-G
gnomAD v4: 11-2148954-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148954C>G , CM000673.2:g.2148954C>G GRCh38
NC_000011.9:g.2170184C>G , CM000673.1:g.2170184C>G GRCh37
NC_000011.8:g.2126760C>G NCBI36
NG_008849.1:g.5650G>C
NG_050578.1:g.17256G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+172G>C (IGF2) ENSP00000511998.1:n.-249+172G>C
ENST00000643349.2:c.254+172G>C ENSP00000495715.1:n.254+172G>C
ENST00000695541.1:c.-249+172G>C (IGF2) ENSP00000511997.1:n.-249+172G>C
ENST00000481781.2:n.345+172G>C
ENST00000643349.1:c.254+172G>C ENSP00000495715.1:n.254+172G>C
ENST00000356578.8:c.407+172G>C (INS-IGF2) ENSP00000348986.4:n.407+172G>C
ENST00000397270.1:c.407+172G>C (INS-IGF2) ENSP00000380440.1:n.407+172G>C
ENST00000476874.1:n.462G>C (INS-IGF2)
ENST00000481781.1:n.612+172G>C (INS-IGF2)
NM_001007139.5:c.-249+172G>C (IGF2) NP_001007140.2:n.-249+172G>C
NM_001042376.2:c.407+172G>C (INS-IGF2) NP_001035835.1:n.407+172G>C
NR_003512.3:n.466+172G>C (INS-IGF2)
NM_001042376.3:c.407+172G>C (INS-IGF2) NP_001035835.1:n.407+172G>C
NR_003512.4:n.466+172G>C (INS-IGF2)
NM_001007139.6:c.-249+172G>C (IGF2) NP_001007140.2:n.-249+172G>C