EGLN2

egl-9 family hypoxia inducible factor 2

Summary

The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]

Known Variants476 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18754571019:41,305,251G/A—benign
rs19247737719:41,305,307G/T—benign
rs1188112419:41,305,740G/A—benign
rs7626877619:41,306,069C/T—benign
rs254576119:41,306,234C/T—benign
rs1154737319:41,306,362G/A—benign
rs122812409519:41,306,482A/G—uncertain significance
rs77554779719:41,306,483C/T—likely benign
rs89220241919:41,306,486C/T—likely benign
rs76049965719:41,306,487C/A—uncertain significance
rs37078958719:41,306,488C/G—uncertain significance
rs99730336419:41,306,489G/A—likely benign
rs131656209319:41,306,492C/G—uncertain significance
rs251599243319:41,306,496C/G—uncertain significance
rs77071686119:41,306,497C/T—uncertain significance
rs76866662419:41,306,498G/A—likely benign
rs251599244219:41,306,501G/C—uncertain significance
rs251599244519:41,306,502C/T—uncertain significance
rs251599244819:41,306,503C/T—uncertain significance
rs251599245419:41,306,504C/A—likely benign
rs208324764619:41,306,505C/T—likely benign
rs76193046619:41,306,507A/G—likely benign
rs124248940919:41,306,512A/C—uncertain significance
rs251599249919:41,306,516T/C—likely benign
rs146167319719:41,306,517C/G—uncertain significance
rs53965830119:41,306,519C/A—likely benign
rs124806974819:41,306,520C/T—uncertain significance
rs75065715419:41,306,521C/T—uncertain significance
rs88876348419:41,306,522T/G—likely benign
rs251599253019:41,306,523C/A—uncertain significance
rs251599253319:41,306,526T/C—likely benign
rs251599253819:41,306,527T/C—uncertain significance
rs136515359619:41,306,529C/T—uncertain significance
rs100724403519:41,306,531A/G—likely benign
rs251599255519:41,306,532G/C—uncertain significance
rs251599256819:41,306,534G/A—likely benign
rs75888015819:41,306,536C/G—uncertain significance
rs140749158219:41,306,537T/G—likely benign
rs148955592819:41,306,540G/A—likely benign
rs75190805619:41,306,543A/G—likely benign
rs89013606219:41,306,546G/C—uncertain significance
rs136051376719:41,306,550T/C—likely benign
rs251599263419:41,306,553G/A—uncertain significance
rs7304708019:41,306,555G/C—likely benign
rs74549951019:41,306,557C/T—uncertain significance
rs251599266519:41,306,558T/G—likely benign
rs126376817619:41,306,561G/T—uncertain significance
rs122045451319:41,306,564T/A—likely benign
rs96852048919:41,306,566G/A—uncertain significance
rs251599270019:41,306,567C/T—likely benign
rs79654110319:41,306,568C/G—uncertain significance
rs53481359719:41,306,569G/A—uncertain significance
rs77518002719:41,306,570G/A—likely benign
rs76849398319:41,306,576G/T—uncertain significance
rs251599275319:41,306,579G/A—uncertain significance
rs251599276219:41,306,582A/C—likely benign
rs251599277119:41,306,584T/C—uncertain significance
rs20158008219:41,306,594C/T—likely benign
rs77360453419:41,306,595C/T—likely benign
rs148297450519:41,306,597G/C—likely benign
rs251599281619:41,306,600C/G—likely benign
rs37417541419:41,306,602G/A—uncertain significance
rs251599283019:41,306,603T/C—likely benign
rs76329653019:41,306,604C/T—uncertain significance
rs77236188919:41,306,605C/A—uncertain significance
rs76657370619:41,306,606C/A—likely benign
rs37674761319:41,306,607C/T—likely benign
rs75530111919:41,306,609G/C—likely benign
rs75319147619:41,306,614C/T—uncertain significance
rs36769174519:41,306,615C/T—likely benign
rs251599288119:41,306,616T/G—uncertain significance
rs208324952619:41,306,622C/T—uncertain significance
rs120497834319:41,306,623A/C—uncertain significance
rs251599291719:41,306,624C/G—uncertain significance
rs248195690419:41,306,625T/G—uncertain significance
rs251599292219:41,306,626G/C—uncertain significance
rs127642893619:41,306,628C/G—uncertain significance
rs148979790019:41,306,629C/G—uncertain significance
rs14412491619:41,306,630A/G—likely benign
rs141446621019:41,306,632G/C—uncertain significance
rs251599295219:41,306,634G/A—uncertain significance
rs126912893919:41,306,635T/C—likely benign
rs251599299119:41,306,643G/A—uncertain significance
rs120158825719:41,306,646G/T—uncertain significance
rs251599300319:41,306,648C/T—likely benign
rs20179293919:41,306,651G/C—likely benign
rs208324987219:41,306,652G/A—uncertain significance
rs251599303619:41,306,653C/T—uncertain significance
rs208324992019:41,306,657G/C—likely benign
rs37184129919:41,306,666C/G—likely benign
rs251599309019:41,306,668C/G—uncertain significance
rs208325010319:41,306,669C/T—likely benign
rs136119403619:41,306,681C/T—likely benign
rs77462725019:41,306,683C/T—uncertain significance
rs251599315619:41,306,684C/G—likely benign
rs208325025619:41,306,686C/T—uncertain significance
rs115774580219:41,306,687T/C—likely benign
rs129971906919:41,306,690C/T—likely benign
rs251599317919:41,306,692C/T—uncertain significance
rs135707204319:41,306,694G/A—uncertain significance

Showing 100 of 476 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.