EEF2 eukaryotic translation elongation factor 2

Information
Symbol
EEF2
Type
protein-coding
Description
eukaryotic translation elongation factor 2
Entrez Gene ID
1938
Genome
hg19
Position
chr19:3,976,054-3,985,461
Genome
hg38
Position
chr19:3,976,056-3,985,463
MIM
130610 OMIM
HGNC
HGNC:3214 HGNC
Ensembl
ENSG00000167658 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 4
Benign 0 196
Likely benign 0 318
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 302
Ranking
ClinVar
0
0
148
626
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
[No Data.]
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 EEF-2
SYNONYM EF-2
SYNONYM EF2
SYNONYM SCA26
MIM 130610 OMIM
HGNC HGNC:3214 HGNC
Ensembl ENSG00000167658 Ensembl
AllianceGenome HGNC:3214
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000309311.7 hg38 chr19 3,976,056 3,985,463 9,408
ENST00000309311.7 hg19 chr19 3,976,054 3,985,461 9,408
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