MIEF2 mitochondrial elongation factor 2

Information
Symbol
MIEF2
Type
protein-coding
Description
mitochondrial elongation factor 2
Entrez Gene ID
125170
Genome
hg19
Position
chr17:18,164,424-18,169,095
Genome
hg38
Position
chr17:18,261,110-18,265,781
MIM
615498 OMIM
HGNC
HGNC:17920 HGNC
Ensembl
ENSG00000177427 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely benign 0 16
not provided 2 0
Uncertain significance 0 100
Ranking
ClinVar
0
0
0
116
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Filtering :
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 COXPD49
SYNONYM D3B
SYNONYM MID49
SYNONYM SMCR7
MIM 615498 OMIM
HGNC HGNC:17920 HGNC
Ensembl ENSG00000177427 Ensembl
AllianceGenome HGNC:17920
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000578174.5 hg38 chr17 18,260,597 18,263,546 2,950
ENST00000578621.5 hg38 chr17 18,260,645 18,263,802 3,158
ENST00000395704.8 hg38 chr17 18,260,597 18,266,204 5,608
ENST00000395703.8 hg38 chr17 18,260,604 18,263,515 2,912
ENST00000395706.2 hg38 chr17 18,261,110 18,265,781 4,672
ENST00000323019.9 hg38 chr17 18,260,662 18,266,552 5,891
ENST00000578174.5 hg19 chr17 18,163,911 18,166,860 2,950
ENST00000395704.8 hg19 chr17 18,163,911 18,169,518 5,608
ENST00000395703.8 hg19 chr17 18,163,918 18,166,829 2,912
ENST00000578621.5 hg19 chr17 18,163,959 18,167,116 3,158
ENST00000323019.9 hg19 chr17 18,163,976 18,169,866 5,891
ENST00000395706.2 hg19 chr17 18,164,424 18,169,095 4,672
Genome browser