IGF2

insulin like growth factor 2

Summary

This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

Known Variants119 total

rsidPosition (GRCh37)AllelesClassClinVar
rs258511:2,150,444T/Gcoding sequence variant—
rs55575934111:2,151,761G/C——
rs7927552911:2,152,259A/G—benign
rs68011:2,153,634T/A——
rs223094911:2,154,188G/Adownstream gene variant—
rs249556995111:2,154,239T/G—uncertain significance
rs105034211:2,154,242G/A—uncertain significance
rs1154501411:2,154,243G/A—uncertain significance
rs185871933711:2,154,247G/T—likely benign
rs55480404411:2,154,255C/G—uncertain significance
rs20003615711:2,154,256G/A—likely benign
rs213358230711:2,154,257T/G—uncertain significance
rs37731611111:2,154,261C/A—uncertain significance
rs76368102711:2,154,265G/C—uncertain significance
rs213358238711:2,154,270G/A—likely pathogenic
rs75672007311:2,154,280A/G—likely benign
rs6173276411:2,154,293C/T—benign
rs124365710611:2,154,294G/A—uncertain significance
rs75884917211:2,154,300G/A—uncertain significance
rs78129982311:2,154,316C/T—likely benign
rs13919412711:2,154,319C/T—benign
rs15086617611:2,154,321C/G—conflicting classifications of pathogenicity
rs77393936011:2,154,322G/T—likely benign
rs37512965411:2,154,339C/T—uncertain significance
rs76571974911:2,154,340G/A—likely benign
rs249557154411:2,154,342G/A—uncertain significance
rs36945265211:2,154,344C/A—uncertain significance
rs37168200511:2,154,348G/C—uncertain significance
rs77830466811:2,154,353G/C—uncertain significance
rs145998375211:2,154,357G/A—uncertain significance
rs249557185711:2,154,374C/A—uncertain significance
rs106544311:2,154,379G/A—likely benign
rs119171952211:2,154,380C/A—uncertain significance
rs249557199211:2,154,388C/T—likely benign
rs249557200211:2,154,390G/C—uncertain significance
rs249557212611:2,154,403C/T—likely pathogenic
rs76166570711:2,154,439T/G—uncertain significance
rs249557250311:2,154,442G/A—likely benign
rs213358337511:2,154,456G/A—uncertain significance
rs249557272611:2,154,464A/C—uncertain significance
rs53620456411:2,154,747C/T—uncertain significance
rs36912242011:2,154,748G/A—uncertain significance
rs77066706711:2,154,750A/G—likely benign
rs14378552111:2,154,760G/A—uncertain significance
rs55458623111:2,154,768C/T—likely benign
rs76779239711:2,154,774G/A—likely benign
rs37303689011:2,154,783G/A—likely benign
rs124288471611:2,154,792G/A—likely benign
rs74811712111:2,154,796G/T—uncertain significance
rs249557642511:2,154,801A/C—likely pathogenic
rs74688839211:2,154,808G/A—uncertain significance
rs14816591711:2,154,813C/T—likely benign
rs180364711:2,154,819G/C—benign
rs249557659211:2,154,821C/T—uncertain significance
rs138331482711:2,154,836G/A—uncertain significance
rs213358505711:2,154,841C/T—uncertain significance
rs156489493211:2,154,842A/G—uncertain significance
rs156489495311:2,154,854C/T—uncertain significance
rs37703443111:2,154,855G/A—likely benign
rs76220014211:2,154,863G/A—uncertain significance
rs249557698611:2,154,872G/A—uncertain significance
rs249557704011:2,154,878C/T—uncertain significance
rs121200959411:2,154,887C/T—uncertain significance
rs19996886411:2,154,888G/A—likely benign
rs249557719111:2,154,890G/A—uncertain significance
rs123858262611:2,154,914A/T—uncertain significance
rs75501316011:2,154,915G/T—likely benign
rs11325725511:2,155,182C/Gdownstream gene variant—
rs20165205611:2,156,579C/G—benign
rs75022591211:2,156,582C/G—likely benign
rs249558958011:2,156,589C/G—likely benign
rs249558961711:2,156,592C/T—pathogenic
rs185893283411:2,156,594T/G—pathogenic
rs86806798211:2,156,609C/T—conflicting classifications of pathogenicity
rs75439935811:2,156,610G/A—likely benign
rs74769761811:2,156,616C/A—likely benign
rs74713599611:2,156,624C/T—uncertain significance
rs14003263311:2,156,625G/A—likely benign
rs249559005511:2,156,648C/A—pathogenic
rs185893718211:2,156,653C/T—pathogenic
rs185893735911:2,156,654C/G—pathogenic
rs55344385711:2,156,655G/Tstop gainedpathogenic
rs105751811511:2,156,657A/Gmissense variantpathogenic
rs159011891911:2,156,658C/G—likely benign
rs20221201411:2,156,660G/A—likely benign
rs123017665711:2,156,675G/A—uncertain significance
rs106479405011:2,156,676G/Asynonymous variantlikely benign
rs14201262111:2,156,695G/T—likely pathogenic
rs76203889511:2,156,700G/A—likely benign
rs76050952311:2,156,724C/T—likely benign
rs86932062011:2,156,731G/Tstop gainedpathogenic
rs14633427611:2,156,733C/A—conflicting classifications of pathogenicity
rs76486581911:2,156,734T/G—conflicting classifications of pathogenicity
rs75790723611:2,156,740A/T—uncertain significance
rs133344062711:2,156,744G/C—uncertain significance
rs78163450711:2,156,749C/T—uncertain significance
rs90761524611:2,156,752A/G—uncertain significance
rs78043164611:2,156,755G/C—uncertain significance
rs20128169611:2,156,756G/A—likely benign
rs249559106811:2,156,761T/A—pathogenic

Showing 100 of 119 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.