EEF2 (eukaryotic translation elongation factor 2) - Rat Genome Database

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Gene: EEF2 (eukaryotic translation elongation factor 2) Homo sapiens
Analyze
Symbol: EEF2
Name: eukaryotic translation elongation factor 2
RGD ID: 1343628
HGNC Page HGNC:3214
Description: Enables protein kinase binding activity and ribosome binding activity. Involved in positive regulation of translation. Located in aggresome; cytosol; and plasma membrane. Part of ribonucleoprotein complex. Implicated in glaucoma and spinocerebellar ataxia type 26. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EEF-2; EF-2; EF2; elongation factor 2; polypeptidyl-tRNA translocase; SCA26; spinocerebellar ataxia 26
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38193,976,056 - 3,985,463 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl193,976,056 - 3,985,463 (-)EnsemblGRCh38hg38GRCh38
GRCh37193,976,054 - 3,985,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,927,054 - 3,936,461 (-)NCBINCBI36hg18NCBI36
Build 34193,927,054 - 3,936,446NCBI
Celera193,912,125 - 3,921,537 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef193,738,145 - 3,747,558 (-)NCBIHuRef
CHM1_1193,974,658 - 3,985,048 (-)NCBICHM1_1
T2T-CHM13v2.0193,954,240 - 3,963,657 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
(S)-nicotine  (EXP)
(Z)-3-butylidenephthalide  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-nitrofluorene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetaldehyde  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
aristolochic acid  (EXP)
arsenous acid  (EXP)
atropine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Brodifacoum  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
capsaicin  (ISO)
carbachol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
CGP 52608  (EXP)
chlorohydrocarbon  (ISO)
chloropicrin  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cumene hydroperoxide  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
fluoxetine  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lovastatin  (ISO)
malonaldehyde  (ISO)
methapyrilene  (ISO)
methylparaben  (EXP)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
nicotine  (EXP)
ochratoxin A  (EXP)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
prostaglandin A1  (ISO)
protein kinase inhibitor  (EXP,ISO)
pyrogallol  (ISO)
quinoline  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
rottlerin  (ISO)
silicon dioxide  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tanespimycin  (EXP)
tert-butyl hydroperoxide  (ISO)
tetrachloroethene  (ISO)
titanium dioxide  (ISO)
torin 1  (EXP)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
U0126  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (ISO)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The mechanics of ribosomal translocation. Achenbach J and Nierhaus KH, Biochimie. 2014 Dec 13. pii: S0300-9084(14)00376-9. doi: 10.1016/j.biochi.2014.12.003.
2. Sumoylation of eukaryotic elongation factor 2 is vital for protein stability and anti-apoptotic activity in lung adenocarcinoma cells. Chen CY, etal., Cancer Sci. 2011 Aug;102(8):1582-9. doi: 10.1111/j.1349-7006.2011.01975.x. Epub 2011 Jun 23.
3. Protein macroarray profiling of serum autoantibodies in pseudoexfoliation glaucoma. Dervan EW, etal., Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2968-75. doi: 10.1167/iovs.09-4898. Epub 2010 Jan 27.
4. Does phosphorylation of eukaryotic elongation factor eEF2 regulate protein synthesis in ischemic preconditioning? Garcia L, etal., J Neurosci Res. 2004 Jul 15;77(2):292-8.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Post-transcriptional effects and interactions between chronic mild stress and acute sleep deprivation: regulation of translation factor and cytoplasmic polyadenylation element-binding protein phosphorylation. Gronli J, etal., Behav Brain Res. 2012 Dec 1;235(2):251-62. doi: 10.1016/j.bbr.2012.08.008. Epub 2012 Aug 16.
7. Gastric Adenocarcinoma Predictive Long Intergenic Non-Coding RNA Promotes Tumor Occurrence and Progression in Non-Small Cell Lung Cancer via Regulation of the miR-661/eEF2K Signaling Pathway. Gu H, etal., Cell Physiol Biochem. 2018;51(5):2136-2147. doi: 10.1159/000495831. Epub 2018 Dec 6.
8. Increased phosphorylation of elongation factor 2 in Alzheimer's disease. Johnson G, etal., Brain Res Mol Brain Res. 1992 Oct;15(3-4):319-26.
9. Levels of mTOR and its downstream targets 4E-BP1, eEF2, and eEF2 kinase in relationships with tau in Alzheimer's disease brain. Li X, etal., FEBS J. 2005 Aug;272(16):4211-20.
10. Overexpression of eukaryotic elongation factor eEF2 in gastrointestinal cancers and its involvement in G2/M progression in the cell cycle. Nakamura J, etal., Int J Oncol. 2009 May;34(5):1181-9.
11. The translation elongation factor eEF2 is a novel tumor‑associated antigen overexpressed in various types of cancers. Oji Y, etal., Int J Oncol. 2014 May;44(5):1461-9. doi: 10.3892/ijo.2014.2318. Epub 2014 Mar 4.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
14. Eukaryotic elongation factor 2 is a prognostic marker and its kinase a potential therapeutic target in HCC. Pott LL, etal., Oncotarget. 2017 Feb 14;8(7):11950-11962. doi: 10.18632/oncotarget.14447.
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Elevated eukaryotic elongation factor 2 expression is involved in proliferation and invasion of lung squamous cell carcinoma. Song Y, etal., Oncotarget. 2016 Sep 6;7(36):58470-58482. doi: 10.18632/oncotarget.11298.
19. Clinical value of eukaryotic elongation factor 2 (eEF2) in non-small cell lung cancer patients. Sun HG, etal., Asian Pac J Cancer Prev. 2014 Jan;14(11):6533-5. doi: 10.7314/apjcp.2013.14.11.6533.
20. Role of elongation factor 2 in regulating peptide-chain elongation in the heart. Vary TC, etal., Am J Physiol. 1994 Apr;266(4 Pt 1):E628-34.
21. Muscarinic acetylcholine receptors regulate the dephosphorylation of eukaryotic translation elongation factor 2 in SNU-407 colon cancer cells. Vasamsetti BMK, etal., Biochem Biophys Res Commun. 2019 Aug 20;516(2):424-429. doi: 10.1016/j.bbrc.2019.06.059. Epub 2019 Jun 19.
22. Structural basis of the translational elongation cycle. Voorhees RM and Ramakrishnan V, Annu Rev Biochem. 2013;82:203-36. doi: 10.1146/annurev-biochem-113009-092313.
23. Immune cell profiling of COVID-19 patients in the recovery stage by single-cell sequencing. Wen W, etal., Cell Discov. 2020 May 4;6:31. doi: 10.1038/s41421-020-0168-9. eCollection 2020.
Additional References at PubMed
PMID:1596361   PMID:2318846   PMID:2610926   PMID:2840927   PMID:3034518   PMID:3693353   PMID:6427766   PMID:8318952   PMID:8386634   PMID:12171600   PMID:12477932   PMID:12777385  
PMID:12891704   PMID:14594813   PMID:14744259   PMID:15189156   PMID:15231747   PMID:15302935   PMID:15489334   PMID:15534876   PMID:15635413   PMID:15835887   PMID:15952740   PMID:16009940  
PMID:16097034   PMID:16263121   PMID:16344560   PMID:16520893   PMID:16611982   PMID:16648488   PMID:16712842   PMID:16964243   PMID:17043677   PMID:17081983   PMID:17220478   PMID:17540176  
PMID:17586317   PMID:17620599   PMID:17824250   PMID:17955473   PMID:18809582   PMID:19036825   PMID:19056867   PMID:19135240   PMID:19199708   PMID:19275587   PMID:19417104   PMID:19738201  
PMID:19946888   PMID:20020773   PMID:20181627   PMID:20301317   PMID:20348541   PMID:20371770   PMID:20379614   PMID:20431927   PMID:20458337   PMID:20473970   PMID:20706999   PMID:20708687  
PMID:20808282   PMID:21132439   PMID:21145461   PMID:21151833   PMID:21280222   PMID:21319273   PMID:21630459   PMID:21800051   PMID:21873635   PMID:21907836   PMID:22020937   PMID:22079093  
PMID:22157746   PMID:22269896   PMID:22304920   PMID:22308030   PMID:22623428   PMID:22658674   PMID:22669845   PMID:22681889   PMID:22863883   PMID:22939629   PMID:22944692   PMID:22952844  
PMID:23001565   PMID:23184662   PMID:23184937   PMID:23190606   PMID:23246001   PMID:23349634   PMID:23376485   PMID:23402259   PMID:23455922   PMID:23533145   PMID:23542375   PMID:23602568  
PMID:23636399   PMID:23798571   PMID:23823123   PMID:23979707   PMID:24167567   PMID:24169447   PMID:24457600   PMID:24480285   PMID:24515614   PMID:24639526   PMID:24648518   PMID:24798327  
PMID:25064856   PMID:25071155   PMID:25147182   PMID:25192599   PMID:25229650   PMID:25231979   PMID:25315684   PMID:25324306   PMID:25437307   PMID:25468996   PMID:25678563   PMID:25737280  
PMID:25756610   PMID:25798074   PMID:25852190   PMID:25921289   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26439863   PMID:26460568   PMID:26496610  
PMID:26499835   PMID:26511642   PMID:26561776   PMID:26618866   PMID:26641092   PMID:26643866   PMID:26760575   PMID:26816005   PMID:26831064   PMID:26972000   PMID:26979993   PMID:27025967  
PMID:27115996   PMID:27182664   PMID:27462432   PMID:27512140   PMID:27545878   PMID:27591049   PMID:27637333   PMID:27684187   PMID:28302793   PMID:28416489   PMID:28443643   PMID:28514442  
PMID:28515276   PMID:28581483   PMID:28685749   PMID:28913610   PMID:28927264   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29212245   PMID:29229926   PMID:29285303   PMID:29298432  
PMID:29331416   PMID:29449217   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29564676   PMID:29748184   PMID:29791485   PMID:29844126   PMID:29845934   PMID:29859926   PMID:29863498  
PMID:29872149   PMID:29991511   PMID:30060827   PMID:30131676   PMID:30179224   PMID:30196744   PMID:30209976   PMID:30349055   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30503554  
PMID:30575818   PMID:30711629   PMID:30737378   PMID:30809309   PMID:30833792   PMID:30890647   PMID:30940648   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31180492  
PMID:31239290   PMID:31253590   PMID:31300519   PMID:31501420   PMID:31536960   PMID:31558304   PMID:31586073   PMID:31620119   PMID:31665637   PMID:31815296   PMID:31980649   PMID:31995728  
PMID:32041737   PMID:32054489   PMID:32129710   PMID:32238831   PMID:32322062   PMID:32347575   PMID:32416067   PMID:32513696   PMID:32529326   PMID:32552912   PMID:32671073   PMID:32698014  
PMID:32786267   PMID:32807901   PMID:32814053   PMID:32814769   PMID:32850835   PMID:32881411   PMID:32929329   PMID:33022573   PMID:33024031   PMID:33057331   PMID:33080218   PMID:33194618  
PMID:33282727   PMID:33306668   PMID:33355653   PMID:33403043   PMID:33545068   PMID:33558705   PMID:33567341   PMID:33644029   PMID:33658012   PMID:33662272   PMID:33711283   PMID:33742100  
PMID:33838681   PMID:33948363   PMID:33961781   PMID:34026424   PMID:34185411   PMID:34265304   PMID:34285210   PMID:34373451   PMID:34591877   PMID:34650049   PMID:34705524   PMID:34709727  
PMID:34711951   PMID:34728620   PMID:34732716   PMID:35013218   PMID:35122331   PMID:35271311  


Genomics

Comparative Map Data
EEF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38193,976,056 - 3,985,463 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl193,976,056 - 3,985,463 (-)EnsemblGRCh38hg38GRCh38
GRCh37193,976,054 - 3,985,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,927,054 - 3,936,461 (-)NCBINCBI36hg18NCBI36
Build 34193,927,054 - 3,936,446NCBI
Celera193,912,125 - 3,921,537 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef193,738,145 - 3,747,558 (-)NCBIHuRef
CHM1_1193,974,658 - 3,985,048 (-)NCBICHM1_1
T2T-CHM13v2.0193,954,240 - 3,963,657 (-)NCBI
Eef2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391081,012,465 - 81,018,343 (+)NCBIGRCm39mm39
GRCm39 Ensembl1081,012,465 - 81,018,332 (+)Ensembl
GRCm381081,176,631 - 81,182,509 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1081,176,631 - 81,182,498 (+)EnsemblGRCm38mm10GRCm38
MGSCv371080,639,376 - 80,645,254 (+)NCBIGRCm37mm9NCBIm37
MGSCv361080,579,789 - 80,585,625 (+)NCBImm8
Celera1082,196,988 - 82,202,866 (+)NCBICelera
Cytogenetic Map10C1NCBI
Eef2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.278,533,248 - 8,538,518 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl78,533,116 - 8,559,183 (-)Ensembl
Rnor_6.0711,401,501 - 11,406,771 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl711,401,501 - 11,406,771 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0711,568,907 - 11,574,177 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,017,061 - 10,022,331 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1710,017,060 - 10,022,331 (-)NCBI
Celera76,721,131 - 6,726,401 (-)NCBICelera
Cytogenetic Map7q11NCBI
Eef2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554954,799,922 - 4,807,252 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554954,800,103 - 4,807,714 (+)NCBIChiLan1.0ChiLan1.0
EEF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1193,950,772 - 3,960,200 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl193,950,772 - 3,960,172 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0193,000,608 - 3,009,918 (-)NCBIMhudiblu_PPA_v0panPan3
EEF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12055,577,413 - 55,586,422 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2055,522,213 - 55,586,126 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2055,303,183 - 55,312,190 (+)NCBI
ROS_Cfam_1.02056,237,756 - 56,246,765 (+)NCBI
ROS_Cfam_1.0 Ensembl2056,237,827 - 56,246,765 (+)Ensembl
UMICH_Zoey_3.12055,293,742 - 55,302,746 (+)NCBI
UNSW_CanFamBas_1.02055,775,305 - 55,784,515 (+)NCBI
UU_Cfam_GSD_1.02055,973,982 - 55,983,220 (+)NCBI
Eef2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118215,567,040 - 215,575,661 (+)NCBI
SpeTri2.0NW_0049365882,259,236 - 2,267,692 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EEF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl274,747,080 - 74,756,680 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1274,746,541 - 74,756,687 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2275,290,872 - 75,300,980 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EEF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.163,733,056 - 3,742,526 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl63,732,425 - 3,742,826 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660814,504,441 - 4,513,956 (+)NCBIVero_WHO_p1.0
Eef2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248285,601,444 - 5,611,405 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248285,601,906 - 5,609,978 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH80123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,976,083 - 3,976,218UniSTSGRCh37
Build 36193,927,083 - 3,927,218RGDNCBI36
Celera193,912,154 - 3,912,289RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,738,174 - 3,738,309UniSTS
GeneMap99-GB4 RH Map1931.92UniSTS
D19S634E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,976,099 - 3,976,179UniSTSGRCh37
Build 36193,927,099 - 3,927,179RGDNCBI36
Celera193,912,170 - 3,912,250RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,738,190 - 3,738,270UniSTS
D19S643E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,982,836 - 3,982,955UniSTSGRCh37
Build 36193,933,836 - 3,933,955RGDNCBI36
Celera193,918,911 - 3,919,030RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,744,932 - 3,745,051UniSTS
RH78243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,976,122 - 3,976,415UniSTSGRCh37
Build 36193,927,122 - 3,927,415RGDNCBI36
Celera193,912,193 - 3,912,486RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,738,213 - 3,738,506UniSTS
GeneMap99-GB4 RH Map1931.19UniSTS
EST11A2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,976,368 - 3,976,574UniSTSGRCh37
Build 36193,927,368 - 3,927,574RGDNCBI36
Celera193,912,439 - 3,912,645RGD
HuRef193,738,459 - 3,738,665UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1857
Count of miRNA genes:842
Interacting mature miRNAs:1000
Transcripts:ENST00000309311, ENST00000594885, ENST00000596417, ENST00000598182, ENST00000598436, ENST00000600720, ENST00000600794
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1955 1548 1060 205 1083 77 3989 1708 1120 267 1024 1304 143 1 1089 2493 4 2
Medium 484 1443 666 419 868 388 368 489 2614 152 436 309 32 115 295 2
Low
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU118535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY942181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000309311   ⟹   ENSP00000307940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,976,056 - 3,985,463 (-)Ensembl
RefSeq Acc Id: ENST00000594885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,983,857 - 3,985,463 (-)Ensembl
RefSeq Acc Id: ENST00000596417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,978,086 - 3,979,459 (-)Ensembl
RefSeq Acc Id: ENST00000598182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,980,687 - 3,982,313 (-)Ensembl
RefSeq Acc Id: ENST00000598436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,980,940 - 3,982,534 (-)Ensembl
RefSeq Acc Id: ENST00000600720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,983,254 - 3,985,112 (-)Ensembl
RefSeq Acc Id: ENST00000600794   ⟹   ENSP00000471265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,976,056 - 3,978,134 (-)Ensembl
RefSeq Acc Id: NM_001961   ⟹   NP_001952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,976,056 - 3,985,463 (-)NCBI
GRCh37193,976,054 - 3,985,477 (-)NCBI
Build 36193,927,054 - 3,936,461 (-)NCBI Archive
HuRef193,738,145 - 3,747,558 (-)ENTREZGENE
CHM1_1193,974,658 - 3,985,048 (-)NCBI
T2T-CHM13v2.0193,954,240 - 3,963,657 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001952   ⟸   NM_001961
- UniProtKB: P13639 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000307940   ⟸   ENST00000309311
RefSeq Acc Id: ENSP00000471265   ⟸   ENST00000600794
Protein Domains
tr-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13639-F1-model_v2 AlphaFold P13639 1-858 view protein structure

Promoters
RGD ID:6811559
Promoter ID:HG_ACW:39293
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:EEF2.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,927,576 - 3,928,637 (-)MPROMDB
RGD ID:6811556
Promoter ID:HG_ACW:39294
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:EEF2.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,928,836 - 3,929,377 (-)MPROMDB
RGD ID:6811558
Promoter ID:HG_ACW:39295
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:EEF2.DAPR07,   EEF2.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,930,396 - 3,932,317 (-)MPROMDB
RGD ID:6811555
Promoter ID:HG_ACW:39296
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:EEF2.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,932,816 - 3,934,287 (-)MPROMDB
RGD ID:6814767
Promoter ID:HG_XEF:3805
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001015785,   NM_001022856,   NM_001042285,   NM_001044128,   NM_001045161,   NM_001045172,   NM_001050639,   NM_001050746,   NM_001053507,   NM_001058592,   NM_001087187,   NM_001089696,   NM_001093408,   NM_001139994,   NM_001157993,   NM_001161139,   NM_001170394,   NM_001180693,   NM_001183552,   NM_017245,   NM_060056,   NM_080366,   NM_165394,   NM_165395,   NM_179487,   NM_200458,   NM_205368,   NM_211043
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,934,921 - 3,935,632 (-)MPROMDB
RGD ID:6795369
Promoter ID:HG_KWN:28553
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001961
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,936,371 - 3,937,432 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001961.4(EEF2):c.1323C>T (p.Asp441=) single nucleotide variant not specified [RCV000518519] Chr19:3980537 [GRCh38]
Chr19:3980535 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2109C>T (p.Asp703=) single nucleotide variant not specified [RCV000516401] Chr19:3977569 [GRCh38]
Chr19:3977567 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1770C>T (p.Leu590=) single nucleotide variant not specified [RCV000516921] Chr19:3978116 [GRCh38]
Chr19:3978114 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.283G>A (p.Gly95Ser) single nucleotide variant not specified [RCV000516794] Chr19:3983227 [GRCh38]
Chr19:3983225 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.2415C>T (p.Gly805=) single nucleotide variant not provided [RCV000949611]|not specified [RCV000517918] Chr19:3976716 [GRCh38]
Chr19:3976714 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.1931C>T (p.Ala644Val) single nucleotide variant not specified [RCV000518145] Chr19:3977955 [GRCh38]
Chr19:3977953 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.282C>T (p.Asp94=) single nucleotide variant not specified [RCV000518209] Chr19:3983228 [GRCh38]
Chr19:3983226 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.741C>T (p.Ala247=) single nucleotide variant not specified [RCV000516534] Chr19:3982296 [GRCh38]
Chr19:3982294 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2148C>T (p.Arg716=) single nucleotide variant not specified [RCV000517343] Chr19:3977530 [GRCh38]
Chr19:3977528 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) single nucleotide variant Spinocerebellar ataxia type 26 [RCV000056312]|not provided [RCV001288169] Chr19:3978099 [GRCh38]
Chr19:3978097 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 copy number loss See cases [RCV000053942] Chr19:2926238..4051635 [GRCh38]
Chr19:2926236..4051633 [GRCh37]
Chr19:2877236..4002633 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 copy number loss See cases [RCV000053943] Chr19:3554635..4690965 [GRCh38]
Chr19:3554633..4690977 [GRCh37]
Chr19:3505633..4641977 [NCBI36]
Chr19:19p13.3
pathogenic
NM_001961.4(EEF2):c.1632T>C (p.His544=) single nucleotide variant Spinocerebellar ataxia type 26 [RCV001657723]|not provided [RCV000991944]|not specified [RCV000116939] Chr19:3979410 [GRCh38]
Chr19:3979408 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) single nucleotide variant Spinocerebellar ataxia type 26 [RCV001657724]|not provided [RCV000991947]|not specified [RCV000116940] Chr19:3977488 [GRCh38]
Chr19:3977486 [GRCh37]
Chr19:19p13.3
benign|likely benign
GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3 copy number gain See cases [RCV000134164] Chr19:3947934..5196676 [GRCh38]
Chr19:3947932..5196687 [GRCh37]
Chr19:3898932..5147687 [NCBI36]
Chr19:19p13.3
pathogenic|uncertain significance
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 copy number loss See cases [RCV000134482] Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1 copy number loss See cases [RCV000135779] Chr19:3437996..4039217 [GRCh38]
Chr19:3437994..4039215 [GRCh37]
Chr19:3388994..3990215 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 copy number loss See cases [RCV000143614] Chr19:3788727..5147354 [GRCh38]
Chr19:3788725..5147365 [GRCh37]
Chr19:3739725..5098365 [NCBI36]
Chr19:19p13.3
likely pathogenic
NM_001961.4(EEF2):c.153C>T (p.Ala51=) single nucleotide variant not specified [RCV000517180] Chr19:3984201 [GRCh38]
Chr19:3984199 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2463C>T (p.Pro821=) single nucleotide variant not specified [RCV000516384] Chr19:3976668 [GRCh38]
Chr19:3976666 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.792-4C>G single nucleotide variant not specified [RCV000517789] Chr19:3982056 [GRCh38]
Chr19:3982054 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser) single nucleotide variant not specified [RCV000518744] Chr19:3982033 [GRCh38]
Chr19:3982031 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1088C>T (p.Thr363Met) single nucleotide variant not provided [RCV001644601] Chr19:3980903 [GRCh38]
Chr19:3980901 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.570C>T (p.Ser190=) single nucleotide variant not specified [RCV000517371] Chr19:3982849 [GRCh38]
Chr19:3982847 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1151-7C>T single nucleotide variant not provided [RCV000898913]|not specified [RCV000517630] Chr19:3980716 [GRCh38]
Chr19:3980714 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.1549C>T (p.Leu517=) single nucleotide variant not provided [RCV000879153]|not specified [RCV000518076] Chr19:3979864 [GRCh38]
Chr19:3979862 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.627C>T (p.Leu209=) single nucleotide variant not provided [RCV000879496]|not specified [RCV000518254] Chr19:3982410 [GRCh38]
Chr19:3982408 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.1746G>A (p.Thr582=) single nucleotide variant not specified [RCV000518665] Chr19:3978140 [GRCh38]
Chr19:3978138 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.898-10G>A single nucleotide variant not specified [RCV000516656] Chr19:3981462 [GRCh38]
Chr19:3981460 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2530C>T (p.Leu844=) single nucleotide variant not provided [RCV000899020]|not specified [RCV000517305] Chr19:3976601 [GRCh38]
Chr19:3976599 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 copy number gain See cases [RCV000448078] Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1169C>T (p.Pro390Leu) single nucleotide variant not specified [RCV000499588] Chr19:3980691 [GRCh38]
Chr19:3980689 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) single nucleotide variant Spinocerebellar ataxia type 26 [RCV000509395] Chr19:3977907 [GRCh38]
Chr19:3977905 [GRCh37]
Chr19:19p13.3
not provided
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001961.4(EEF2):c.1784C>T (p.Ser595Phe) single nucleotide variant not provided [RCV000677282] Chr19:3978102 [GRCh38]
Chr19:3978100 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NM_001961.4(EEF2):c.1347-8T>G single nucleotide variant not provided [RCV000711573] Chr19:3980074 [GRCh38]
Chr19:3980072 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1569G>A (p.Gly523=) single nucleotide variant not provided [RCV000711574] Chr19:3979844 [GRCh38]
Chr19:3979842 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.15G>A (p.Thr5=) single nucleotide variant not provided [RCV000711575] Chr19:3984339 [GRCh38]
Chr19:3984337 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1908C>G (p.Ala636=) single nucleotide variant not provided [RCV000711576] Chr19:3977978 [GRCh38]
Chr19:3977976 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.2115C>T (p.His705=) single nucleotide variant not provided [RCV000711577] Chr19:3977563 [GRCh38]
Chr19:3977561 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2133C>T (p.Ala711=) single nucleotide variant not provided [RCV000711578] Chr19:3977545 [GRCh38]
Chr19:3977543 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.4-3C>G single nucleotide variant not provided [RCV000711584] Chr19:3984353 [GRCh38]
Chr19:3984351 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.711C>T (p.Ala237=) single nucleotide variant not provided [RCV000711589]|not specified [RCV001283510] Chr19:3982326 [GRCh38]
Chr19:3982324 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.-7C>G single nucleotide variant not provided [RCV000711590] Chr19:3985387 [GRCh38]
Chr19:3985385 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.801C>T (p.Asp267=) single nucleotide variant not provided [RCV000711591] Chr19:3982043 [GRCh38]
Chr19:3982041 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1251C>A (p.Phe417Leu) single nucleotide variant not provided [RCV000711571] Chr19:3980609 [GRCh38]
Chr19:3980607 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.128C>T (p.Ala43Val) single nucleotide variant not provided [RCV000711572] Chr19:3984226 [GRCh38]
Chr19:3984224 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2331C>T (p.Ala777=) single nucleotide variant not provided [RCV000711581] Chr19:3977267 [GRCh38]
Chr19:3977265 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.279G>A (p.Lys93=) single nucleotide variant not provided [RCV000711582] Chr19:3983231 [GRCh38]
Chr19:3983229 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.402C>T (p.Gly134=) single nucleotide variant not provided [RCV000711583] Chr19:3983017 [GRCh38]
Chr19:3983015 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.486C>T (p.Arg162=) single nucleotide variant not provided [RCV000711585] Chr19:3982933 [GRCh38]
Chr19:3982931 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.543C>T (p.Ile181=) single nucleotide variant not provided [RCV000711586] Chr19:3982876 [GRCh38]
Chr19:3982874 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.60C>A (p.Arg20=) single nucleotide variant not provided [RCV000711587] Chr19:3984294 [GRCh38]
Chr19:3984292 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2175A>G (p.Ala725=) single nucleotide variant not provided [RCV000711579] Chr19:3977503 [GRCh38]
Chr19:3977501 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2241G>A (p.Val747=) single nucleotide variant Spinocerebellar ataxia type 26 [RCV001809777]|not provided [RCV000711580] Chr19:3977437 [GRCh38]
Chr19:3977435 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_001961.4(EEF2):c.906T>C (p.Asp302=) single nucleotide variant not provided [RCV000711592]|not specified [RCV001283511] Chr19:3981444 [GRCh38]
Chr19:3981442 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.637G>T (p.Gly213Cys) single nucleotide variant not provided [RCV000711588] Chr19:3982400 [GRCh38]
Chr19:3982398 [GRCh37]
Chr19:19p13.3
uncertain significance
Single allele duplication Primary amenorrhea [RCV000754469] Chr19:3718839..4604407 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001961.4(EEF2):c.1713+15A>G single nucleotide variant not provided [RCV001540427] Chr19:3979314 [GRCh38]
Chr19:3979312 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1542G>A (p.Pro514=) single nucleotide variant not provided [RCV000891551] Chr19:3979871 [GRCh38]
Chr19:3979869 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2250+10A>G single nucleotide variant not provided [RCV000991948] Chr19:3977418 [GRCh38]
Chr19:3977416 [GRCh37]
Chr19:19p13.3
benign
Single allele deletion Internal malformations [RCV000787421] Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2496C>T (p.Ser832=) single nucleotide variant not provided [RCV000884127] Chr19:3976635 [GRCh38]
Chr19:3976633 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.2205C>T (p.Thr735=) single nucleotide variant not provided [RCV000967490]|not specified [RCV001288174] Chr19:3977473 [GRCh38]
Chr19:3977471 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1470C>T (p.His490=) single nucleotide variant not provided [RCV000902496]|not specified [RCV001288165] Chr19:3979943 [GRCh38]
Chr19:3979941 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.2205C>G (p.Thr735=) single nucleotide variant not provided [RCV000904294] Chr19:3977473 [GRCh38]
Chr19:3977471 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.339G>A (p.Ser113=) single nucleotide variant not provided [RCV000897851] Chr19:3983171 [GRCh38]
Chr19:3983169 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001961.4(EEF2):c.1869C>T (p.Ser623=) single nucleotide variant not provided [RCV000887771] Chr19:3978017 [GRCh38]
Chr19:3978015 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1215C>T (p.Ser405=) single nucleotide variant not provided [RCV000891668]|not specified [RCV001664533] Chr19:3980645 [GRCh38]
Chr19:3980643 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.837C>T (p.Ser279=) single nucleotide variant not provided [RCV000991952] Chr19:3982007 [GRCh38]
Chr19:3982005 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1702A>G (p.Ile568Val) single nucleotide variant not provided [RCV000996716] Chr19:3979340 [GRCh38]
Chr19:3979338 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.366C>T (p.Thr122=) single nucleotide variant not provided [RCV000996717] Chr19:3983144 [GRCh38]
Chr19:3983142 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1233C>T (p.Tyr411=) single nucleotide variant not provided [RCV000991942] Chr19:3980627 [GRCh38]
Chr19:3980625 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1725G>A (p.Pro575=) single nucleotide variant not specified [RCV001644880] Chr19:3978161 [GRCh38]
Chr19:3978159 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln) single nucleotide variant not provided [RCV000991951] Chr19:3982291 [GRCh38]
Chr19:3982289 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1746G>C (p.Thr582=) single nucleotide variant not provided [RCV000915157] Chr19:3978140 [GRCh38]
Chr19:3978138 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.2176C>T (p.Arg726Trp) single nucleotide variant not provided [RCV002001663] Chr19:3977502 [GRCh38]
Chr19:3977500 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1446G>A (p.Thr482=) single nucleotide variant not provided [RCV000991943] Chr19:3979967 [GRCh38]
Chr19:3979965 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.210C>T (p.Ile70=) single nucleotide variant not provided [RCV000991946] Chr19:3984144 [GRCh38]
Chr19:3984142 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001961.4(EEF2):c.4-64C>T single nucleotide variant not provided [RCV001615743] Chr19:3984414 [GRCh38]
Chr19:3984412 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.612+20G>A single nucleotide variant not provided [RCV001618061] Chr19:3982787 [GRCh38]
Chr19:3982785 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.3+126G>C single nucleotide variant not provided [RCV001717537] Chr19:3985252 [GRCh38]
Chr19:3985250 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.*111C>T single nucleotide variant not provided [RCV001688754] Chr19:3976443 [GRCh38]
Chr19:3976441 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1713+8G>T single nucleotide variant not specified [RCV001663428] Chr19:3979321 [GRCh38]
Chr19:3979319 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2460G>T (p.Leu820=) single nucleotide variant not specified [RCV001663432] Chr19:3976671 [GRCh38]
Chr19:3976669 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.905A>T (p.Asp302Val) single nucleotide variant not provided [RCV001663434] Chr19:3981445 [GRCh38]
Chr19:3981443 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1713+171C>G single nucleotide variant not provided [RCV001654635] Chr19:3979158 [GRCh38]
Chr19:3979156 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2379C>T (p.Ser793=) single nucleotide variant not provided [RCV000952772]|not specified [RCV001664571] Chr19:3977219 [GRCh38]
Chr19:3977217 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2460G>C (p.Leu820=) single nucleotide variant not provided [RCV000888142]|not specified [RCV001288951] Chr19:3976671 [GRCh38]
Chr19:3976669 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2090T>C (p.Met697Thr) single nucleotide variant not provided [RCV000996715] Chr19:3977588 [GRCh38]
Chr19:3977586 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.909G>A (p.Ala303=) single nucleotide variant not provided [RCV000915417] Chr19:3981441 [GRCh38]
Chr19:3981439 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.2067+10G>A single nucleotide variant not provided [RCV000950838]|not specified [RCV001288171] Chr19:3977809 [GRCh38]
Chr19:3977807 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2424G>A (p.Ala808=) single nucleotide variant not provided [RCV000974300]|not specified [RCV001288176] Chr19:3976707 [GRCh38]
Chr19:3976705 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1677G>A (p.Lys559=) single nucleotide variant not provided [RCV000898501]|not specified [RCV001288168] Chr19:3979365 [GRCh38]
Chr19:3979363 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.114C>T (p.Ser38=) single nucleotide variant not provided [RCV000913023] Chr19:3984240 [GRCh38]
Chr19:3984238 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1350A>G (p.Thr450=) single nucleotide variant not provided [RCV000933656] Chr19:3980063 [GRCh38]
Chr19:3980061 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1668C>A (p.Ile556=) single nucleotide variant not provided [RCV000957825]|not specified [RCV001288167] Chr19:3979374 [GRCh38]
Chr19:3979372 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.444C>T (p.Ala148=) single nucleotide variant not provided [RCV000890597] Chr19:3982975 [GRCh38]
Chr19:3982973 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001961.4(EEF2):c.1137C>T (p.Asp379=) single nucleotide variant not provided [RCV000957972] Chr19:3980854 [GRCh38]
Chr19:3980852 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.3+228T>C single nucleotide variant not provided [RCV001676807] Chr19:3985150 [GRCh38]
Chr19:3985148 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2384-118G>A single nucleotide variant not provided [RCV001717540] Chr19:3976865 [GRCh38]
Chr19:3976863 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1176C>T (p.Gly392=) single nucleotide variant not provided [RCV000991941] Chr19:3980684 [GRCh38]
Chr19:3980682 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2383+8C>T single nucleotide variant not provided [RCV000991949] Chr19:3977207 [GRCh38]
Chr19:3977205 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.288C>T (p.Ala96=) single nucleotide variant not provided [RCV000991950] Chr19:3983222 [GRCh38]
Chr19:3983220 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1346+145C>A single nucleotide variant not provided [RCV001675291] Chr19:3980369 [GRCh38]
Chr19:3980367 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.219-13C>T single nucleotide variant not provided [RCV001538415] Chr19:3983304 [GRCh38]
Chr19:3983302 [GRCh37]
Chr19:19p13.3
benign
Single allele single nucleotide variant not provided [RCV001597941] Chr19:3985578 [GRCh38]
Chr19:3985576 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1168C>G (p.Pro390Ala) single nucleotide variant not provided [RCV001663427] Chr19:3980692 [GRCh38]
Chr19:3980690 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2430C>T (p.Pro810=) single nucleotide variant not specified [RCV001663431] Chr19:3976701 [GRCh38]
Chr19:3976699 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.4-192A>G single nucleotide variant not provided [RCV001686815] Chr19:3984542 [GRCh38]
Chr19:3984540 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001961.4(EEF2):c.4-105C>T single nucleotide variant not provided [RCV001611123] Chr19:3984455 [GRCh38]
Chr19:3984453 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1150+15T>C single nucleotide variant Spinocerebellar ataxia type 26 [RCV001661269]|not provided [RCV001694150] Chr19:3980826 [GRCh38]
Chr19:3980824 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1714-6T>C single nucleotide variant not specified [RCV001663429] Chr19:3978178 [GRCh38]
Chr19:3978176 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.*299C>T single nucleotide variant not provided [RCV001648665] Chr19:3976255 [GRCh38]
Chr19:3976253 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.898-76T>C single nucleotide variant not provided [RCV001693851] Chr19:3981528 [GRCh38]
Chr19:3981526 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.*231A>C single nucleotide variant not provided [RCV001714413] Chr19:3976323 [GRCh38]
Chr19:3976321 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1989C>T (p.Thr663=) single nucleotide variant not specified [RCV001663430] Chr19:3977897 [GRCh38]
Chr19:3977895 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1150+4C>T single nucleotide variant not specified [RCV001663426] Chr19:3980837 [GRCh38]
Chr19:3980835 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.567C>T (p.Ile189=) single nucleotide variant not provided [RCV001685349]|not specified [RCV001288957] Chr19:3982852 [GRCh38]
Chr19:3982850 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.633C>T (p.Thr211=) single nucleotide variant not specified [RCV001288959] Chr19:3982404 [GRCh38]
Chr19:3982402 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.522C>T (p.Leu174=) single nucleotide variant not specified [RCV001663433] Chr19:3982897 [GRCh38]
Chr19:3982895 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1293G>A (p.Gly431=) single nucleotide variant not provided [RCV001288164] Chr19:3980567 [GRCh38]
Chr19:3980565 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.2130C>T (p.His710=) single nucleotide variant not specified [RCV001288172] Chr19:3977548 [GRCh38]
Chr19:3977546 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.450C>T (p.Arg150=) single nucleotide variant not provided [RCV001619900]|not specified [RCV001288955] Chr19:3982969 [GRCh38]
Chr19:3982967 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1150G>T (p.Gly384Cys) single nucleotide variant not provided [RCV001288163] Chr19:3980841 [GRCh38]
Chr19:3980839 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.591C>T (p.Ser197=) single nucleotide variant not specified [RCV001288958] Chr19:3982828 [GRCh38]
Chr19:3982826 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.787G>C (p.Asp263His) single nucleotide variant not provided [RCV001288961] Chr19:3982250 [GRCh38]
Chr19:3982248 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.712G>A (p.Ala238Thr) single nucleotide variant not provided [RCV001288960] Chr19:3982325 [GRCh38]
Chr19:3982323 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.*3G>A single nucleotide variant not provided [RCV001644969]|not specified [RCV001288162] Chr19:3976551 [GRCh38]
Chr19:3976549 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1896G>A (p.Ala632=) single nucleotide variant not provided [RCV001288170] Chr19:3977990 [GRCh38]
Chr19:3977988 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.318C>T (p.Pro106=) single nucleotide variant not specified [RCV001288953] Chr19:3983192 [GRCh38]
Chr19:3983190 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.2307C>T (p.His769=) single nucleotide variant not specified [RCV001288175] Chr19:3977291 [GRCh38]
Chr19:3977289 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.324T>C (p.His108=) single nucleotide variant not provided [RCV001538621]|not specified [RCV001288954] Chr19:3983186 [GRCh38]
Chr19:3983184 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.791+9C>T single nucleotide variant not provided [RCV001288962] Chr19:3982237 [GRCh38]
Chr19:3982235 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.143C>T (p.Ser48Leu) single nucleotide variant not provided [RCV001355009] Chr19:3984211 [GRCh38]
Chr19:3984209 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2136C>T (p.Asp712=) single nucleotide variant not specified [RCV001288173] Chr19:3977542 [GRCh38]
Chr19:3977540 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.276C>T (p.Ser92=) single nucleotide variant not provided [RCV001288952] Chr19:3983234 [GRCh38]
Chr19:3983232 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.4-8T>A single nucleotide variant not provided [RCV001288956] Chr19:3984358 [GRCh38]
Chr19:3984356 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:3976203-4345430) copy number loss Obesity [RCV001352661] Chr19:3976203..4345430 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001961.4(EEF2):c.1479C>T (p.Asn493=) single nucleotide variant not provided [RCV001288166] Chr19:3979934 [GRCh38]
Chr19:3979932 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.400+26C>T single nucleotide variant not provided [RCV001671306] Chr19:3983084 [GRCh38]
Chr19:3983082 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1011+17G>A single nucleotide variant not provided [RCV001703255] Chr19:3981322 [GRCh38]
Chr19:3981320 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.219-273A>G single nucleotide variant not provided [RCV001654634] Chr19:3983564 [GRCh38]
Chr19:3983562 [GRCh37]
Chr19:19p13.3
benign
NM_001961.4(EEF2):c.1638C>T (p.Ile546=) single nucleotide variant not provided [RCV001727064] Chr19:3979404 [GRCh38]
Chr19:3979402 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.433C>T (p.Gln145Ter) single nucleotide variant not provided [RCV001755379] Chr19:3982986 [GRCh38]
Chr19:3982984 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_001961.4(EEF2):c.1591G>A (p.Asp531Asn) single nucleotide variant not provided [RCV001755476] Chr19:3979822 [GRCh38]
Chr19:3979820 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2384-163A>G single nucleotide variant not provided [RCV002244358] Chr19:3976910 [GRCh38]
Chr19:3976908 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.1538A>T (p.Asn513Ile) single nucleotide variant not provided [RCV002244445] Chr19:3979875 [GRCh38]
Chr19:3979873 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.86A>C (p.Asp29Ala) single nucleotide variant not provided [RCV001776694] Chr19:3984268 [GRCh38]
Chr19:3984266 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1346+34A>C single nucleotide variant not provided [RCV001786044] Chr19:3980480 [GRCh38]
Chr19:3980478 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.658G>A (p.Gly220Arg) single nucleotide variant not provided [RCV001768328] Chr19:3982379 [GRCh38]
Chr19:3982377 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.585C>T (p.Gly195=) single nucleotide variant not provided [RCV001757525] Chr19:3982834 [GRCh38]
Chr19:3982832 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2449T>G (p.Trp817Gly) single nucleotide variant not provided [RCV001787506] Chr19:3976682 [GRCh38]
Chr19:3976680 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.1605+115dup duplication not provided [RCV001787656] Chr19:3979692..3979693 [GRCh38]
Chr19:3979690..3979691 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.218+204C>T single nucleotide variant not provided [RCV001797243] Chr19:3983932 [GRCh38]
Chr19:3983930 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.667T>C (p.Phe223Leu) single nucleotide variant not provided [RCV001776745] Chr19:3982370 [GRCh38]
Chr19:3982368 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.218C>T (p.Thr73Ile) single nucleotide variant not provided [RCV001797335] Chr19:3984136 [GRCh38]
Chr19:3984134 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2067+55C>T single nucleotide variant not provided [RCV001797395] Chr19:3977764 [GRCh38]
Chr19:3977762 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.4-141G>A single nucleotide variant not provided [RCV001797418] Chr19:3984491 [GRCh38]
Chr19:3984489 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.3+134G>T single nucleotide variant not provided [RCV001797473] Chr19:3985244 [GRCh38]
Chr19:3985242 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1 copy number loss not provided [RCV001827741] Chr19:3788725..4225547 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.2508G>A (p.Ala836=) single nucleotide variant not specified [RCV001844570] Chr19:3976623 [GRCh38]
Chr19:3976621 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1 copy number loss not provided [RCV001834187] Chr19:3501624..5357124 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001961.4(EEF2):c.2384-197A>G single nucleotide variant not provided [RCV002210962] Chr19:3976944 [GRCh38]
Chr19:3976942 [GRCh37]
Chr19:19p13.3
likely benign
NM_001961.4(EEF2):c.981C>A (p.Asp327Glu) single nucleotide variant not specified [RCV002247797] Chr19:3981369 [GRCh38]
Chr19:3981367 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001961.4(EEF2):c.278A>G (p.Lys93Arg) single nucleotide variant not specified [RCV002247798] Chr19:3983232 [GRCh38]
Chr19:3983230 [GRCh37]
Chr19:19p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3214 AgrOrtholog
COSMIC EEF2 COSMIC
Ensembl Genes ENSG00000167658 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307940 ENTREZGENE
  ENSP00000307940.5 UniProtKB/Swiss-Prot
  ENSP00000471265.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000309311 ENTREZGENE
  ENST00000309311.7 UniProtKB/Swiss-Prot
  ENST00000600794.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167658 GTEx
HGNC ID HGNC:3214 ENTREZGENE
Human Proteome Map EEF2 Human Proteome Map
InterPro EFG_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_III/V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_V-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFTu-like_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_TR_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_B-barrel_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_elong_EFG/EF2_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1938 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1938 ENTREZGENE
OMIM 130610 OMIM
  609306 OMIM
Pfam EFG_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTP_EFTU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTP_EFTU_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27650 PharmGKB
PRINTS ELONGATNFCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_TR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_TR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFG_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384N6H1_HUMAN UniProtKB/TrEMBL
  EF2_HUMAN UniProtKB/Swiss-Prot
  M0R0I6_HUMAN UniProtKB/TrEMBL
  P13639 ENTREZGENE
  Q6PK56_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RMP5 UniProtKB/Swiss-Prot
  D6W618 UniProtKB/Swiss-Prot
  Q58J86 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-22 EEF2  eukaryotic translation elongation factor 2  SCA26  spinocerebellar ataxia 26  Data Merged 737654 PROVISIONAL
2011-08-17 EEF2  eukaryotic translation elongation factor 2  EEF2  eukaryotic translation elongation factor 2  Symbol and/or name change 5135510 APPROVED