EGLN2 egl-9 family hypoxia inducible factor 2

Information
Symbol
EGLN2
Type
protein-coding
Description
egl-9 family hypoxia inducible factor 2
Entrez Gene ID
112398
Genome
hg19
Position
chr19:41,305,450-41,314,338
Genome
hg38
Position
chr19:40,799,545-40,808,433
MIM
606424 OMIM
HGNC
HGNC:14660 HGNC
Ensembl
ENSG00000269858 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 36
Likely benign 0 534
Uncertain significance 0 552
Ranking
ClinVar
0
0
4
1,114
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency
TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence
Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM EIT-6
SYNONYM EIT6
SYNONYM HIF-PH1
SYNONYM HIFPH1
SYNONYM HPH-1
SYNONYM HPH-3
SYNONYM PHD1
MIM 606424 OMIM
HGNC HGNC:14660 HGNC
Ensembl ENSG00000269858 Ensembl
AllianceGenome HGNC:14660
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000593726.5 hg38 chr19 40,799,545 40,808,433 8,889
ENST00000406058.6 hg38 chr19 40,799,515 40,808,432 8,918
ENST00000594140.5 hg38 chr19 40,803,140 40,808,378 5,239
ENST00000303961.9 hg38 chr19 40,799,191 40,808,434 9,244
ENST00000303961.9 hg19 chr19 41,305,096 41,314,339 9,244
ENST00000406058.6 hg19 chr19 41,305,420 41,314,337 8,918
ENST00000593726.5 hg19 chr19 41,305,450 41,314,338 8,889
ENST00000594140.5 hg19 chr19 41,309,045 41,314,283 5,239
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