Canonical Allele Identifier: CA2611973304
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2148917-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148917A>T , CM000673.2:g.2148917A>T GRCh38
NC_000011.9:g.2170147A>T , CM000673.1:g.2170147A>T GRCh37
NC_000011.8:g.2126723A>T NCBI36
NG_008849.1:g.5687T>A
NG_050578.1:g.17293T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+209T>A (IGF2) ENSP00000511998.1:n.-249+209T>A
ENST00000643349.2:c.254+209T>A ENSP00000495715.1:n.254+209T>A
ENST00000695541.1:c.-249+209T>A (IGF2) ENSP00000511997.1:n.-249+209T>A
ENST00000481781.2:n.345+209T>A
ENST00000643349.1:c.254+209T>A ENSP00000495715.1:n.254+209T>A
ENST00000356578.8:c.407+209T>A (INS-IGF2) ENSP00000348986.4:n.407+209T>A
ENST00000397270.1:c.407+209T>A (INS-IGF2) ENSP00000380440.1:n.407+209T>A
ENST00000481781.1:n.612+209T>A (INS-IGF2)
NM_001007139.5:c.-249+209T>A (IGF2) NP_001007140.2:n.-249+209T>A
NM_001042376.2:c.407+209T>A (INS-IGF2) NP_001035835.1:n.407+209T>A
NR_003512.3:n.466+209T>A (INS-IGF2)
NM_001042376.3:c.407+209T>A (INS-IGF2) NP_001035835.1:n.407+209T>A
NR_003512.4:n.466+209T>A (INS-IGF2)
NM_001007139.6:c.-249+209T>A (IGF2) NP_001007140.2:n.-249+209T>A