Canonical Allele Identifier: CA1948016473
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs1860143882
gnomAD v4: 11-2148931-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148931G>A , CM000673.2:g.2148931G>A GRCh38
NC_000011.9:g.2170161G>A , CM000673.1:g.2170161G>A GRCh37
NC_000011.8:g.2126737G>A NCBI36
NG_008849.1:g.5673C>T
NG_050578.1:g.17279C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+195C>T (IGF2) ENSP00000511998.1:n.-249+195C>T
ENST00000643349.2:c.254+195C>T ENSP00000495715.1:n.254+195C>T
ENST00000695541.1:c.-249+195C>T (IGF2) ENSP00000511997.1:n.-249+195C>T
ENST00000481781.2:n.345+195C>T
ENST00000643349.1:c.254+195C>T ENSP00000495715.1:n.254+195C>T
ENST00000356578.8:c.407+195C>T (INS-IGF2) ENSP00000348986.4:n.407+195C>T
ENST00000397270.1:c.407+195C>T (INS-IGF2) ENSP00000380440.1:n.407+195C>T
ENST00000481781.1:n.612+195C>T (INS-IGF2)
NM_001007139.5:c.-249+195C>T (IGF2) NP_001007140.2:n.-249+195C>T
NM_001042376.2:c.407+195C>T (INS-IGF2) NP_001035835.1:n.407+195C>T
NR_003512.3:n.466+195C>T (INS-IGF2)
NM_001042376.3:c.407+195C>T (INS-IGF2) NP_001035835.1:n.407+195C>T
NR_003512.4:n.466+195C>T (INS-IGF2)
NM_001007139.6:c.-249+195C>T (IGF2) NP_001007140.2:n.-249+195C>T