Canonical Allele Identifier: CA472029353
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2170490C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2149260C>A , CM000673.2:g.2149260C>A GRCh38
NC_000011.9:g.2170490C>A , CM000673.1:g.2170490C>A GRCh37
NC_000011.8:g.2127066C>A NCBI36
NG_008849.1:g.5344G>T
NG_050578.1:g.16950G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-383G>T (IGF2) ENSP00000511998.1:n.-383G>T
ENST00000643349.2:c.120G>T ENSP00000495715.1:p.Val40=
ENST00000695541.1:c.-383G>T (IGF2) ENSP00000511997.1:n.-383G>T
ENST00000481781.2:n.211G>T
ENST00000643349.1:c.120G>T ENSP00000495715.1:p.Val40=
ENST00000356578.8:c.273G>T (INS-IGF2) ENSP00000348986.4:p.Val91=
ENST00000397270.1:c.273G>T (INS-IGF2) ENSP00000380440.1:p.Val91=
ENST00000476874.1:n.156G>T (INS-IGF2)
ENST00000481781.1:n.478G>T (INS-IGF2)
NM_001007139.5:c.-383G>T (IGF2) NP_001007140.2:n.-383G>T
NM_001042376.2:c.273G>T (INS-IGF2) NP_001035835.1:p.Val91=
NR_003512.3:n.332G>T (INS-IGF2)
NM_001042376.3:c.273G>T (INS-IGF2) NP_001035835.1:p.Val91=
NR_003512.4:n.332G>T (INS-IGF2)
NM_001007139.6:c.-383G>T (IGF2) NP_001007140.2:n.-383G>T