ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.
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gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
12-7025004-T-C	ENST00000229277	p.Ile3Thr	Missense Variant	0	0	0	rs782353734
12-7025004-T-C	ENST00000541477	p.Ile3Thr	Missense Variant	0	0	0	rs782353734
12-7025005-A-G	ENST00000229277	p.Ile3Met	Missense Variant	0	0	0
12-7025005-A-G	ENST00000541477	p.Ile3Met	Missense Variant	0	0	0
12-7025013-T-A	ENST00000229277	p.Ile6Asn	Missense Variant	1	31326	0.000032
12-7025013-T-A	ENST00000541477	p.Ile6Asn	Missense Variant	1	31326	0.000032
12-7025019-C-A	ENST00000229277	p.Ala8Asp	Missense Variant	0	0	0
12-7025019-C-A	ENST00000541477	p.Ala8Asp	Missense Variant	0	0	0
12-7025020-C-T	ENST00000229277	p.Ala8Ala	Synonymous Variant	0	0	0
12-7025020-C-T	ENST00000541477	p.Ala8Ala	Synonymous Variant	0	0	0
12-7025026-G-A	ENST00000229277	p.Glu10Glu	Synonymous Variant	0	0	0	rs782594480
12-7025026-G-A	ENST00000541477	p.Glu10Glu	Synonymous Variant	0	0	0	rs782594480
12-7025028-T-C	ENST00000229277	p.Ile11Thr	Missense Variant	0	0	0	rs782253860
12-7025028-T-C	ENST00000541477	p.Ile11Thr	Missense Variant	0	0	0	rs782253860
12-7025032-G-C	ENST00000229277	p.Leu12Leu	Synonymous Variant	0	0	0	rs782430511
12-7025032-G-C	ENST00000541477	p.Leu12Leu	Synonymous Variant	0	0	0	rs782430511
12-7025040-G-A	ENST00000229277	p.Arg15His	Missense Variant	0	0	0
12-7025040-G-A	ENST00000541477	p.Arg15His	Missense Variant	0	0	0
12-7025050-C-T	ENST00000229277	p.Pro18Pro	Synonymous Variant	0	0	0	rs372833368
12-7025050-C-T	ENST00000541477	p.Pro18Pro	Synonymous Variant	0	0	0	rs372833368

Showing 1 to 20 of 624 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
ENO2	P09104	Ubiquitination	105	K105-ub	DGTENKSkFGANAIL	47.27	15388089
ENO2	P09104	Ubiquitination	120	K120-ub	GVSLAVCkAGAAERE	47.27	15388092
ENO2	P09104	Phosphorylation	131	Y131-p	AERELPLyRHIAQLA	47.27	15569074
ENO2	P09104	Ubiquitination	193	K193-ub	AEVYHTLkGVIkDKY	47.27	27188355
ENO2	P09104	Acetylation	193	K193-ac	AEVYHTLkGVIkDKY	47.27	14320211
ENO2	P09104	Ubiquitination	197	K197-ub	HTLkGVIkDKYGkDA	47.27	3883745
ENO2	P09104	Acetylation	197	K197-ac	HTLkGVIkDKYGkDA	47.27	14320215
ENO2	P09104	Ubiquitination	202	K202-ub	VIkDKYGkDATNVGD	47.27	610815868
ENO2	P09104	Acetylation	202	K202-ac	VIkDKYGkDATNVGD	47.27	33361804
ENO2	P09104	Ubiquitination	228	K228-ub	SEALELVkEAIDKAG	47.27	3931419
ENO2	P09104	Acetylation	228	K228-ac	SEALELVkEAIDKAG	47.27	3925578
ENO2	P09104	Phosphorylation	236	Y236-p	EAIDKAGyTEKIVIG	47.27	464745
ENO2	P09104	Phosphorylation	25	Y25-p	PTVEVDLytAKGLFR	47.27	456321
ENO2	P09104	Ubiquitination	256	K256-ub	SEFYRDGkYDLDFks	47.27	573760708
ENO2	P09104	Phosphorylation	26	T26-p	TVEVDLytAKGLFRA	47.27	14573084
ENO2	P09104	Ubiquitination	262	K262-ub	GkYDLDFksPtDPSR	47.27	573760710
ENO2	P09104	Phosphorylation	263	S263-p	kYDLDFksPtDPSRY	47.27	4703744
ENO2	P09104	Phosphorylation	265	T265-p	DLDFksPtDPSRYIT	47.27	3147285
ENO2	P09104	Ubiquitination	326	K326-ub	DLTVTNPkRIERAVE	47.27	15388086
ENO2	P09104	Ubiquitination	335	K335-ub	IERAVEEkACNCLLL	47.27	573760712

Showing 1 to 20 of 35 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
ENO2	ENST00000535366	MOLT-4	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	80682977	c.1193del	p.P398Rfs*14	Deletion - Frameshift			Confirmed somatic variant	PMID: 23856246	primary	398
ENO2	ENST00000535366	6	skin	carcinoma	80682116	c.181+8C>T	p.?	Unknown	NEUTRAL	.14619	Confirmed somatic variant	PMID: 27592799	primary	0
ENO2	ENST00000535366	8067240	pancreas	carcinoma	80683245	c.72C>G	p.L24=	Substitution - coding silent	NEUTRAL	.16344	Confirmed somatic variant	PMID: N/A	NS	24
ENO2	ENST00000535366	W34T	thyroid	carcinoma	80681977	c.853A>G	p.R285G	Substitution - Missense	PATHOGENIC	.88411	Confirmed somatic variant	PMID: N/A	primary	285
ENO2	ENST00000535366	PS-286-5D	prostate	carcinoma	80681937	c.979C>A	p.R327S	Substitution - Missense	PATHOGENIC	.9321	Confirmed somatic variant	PMID: 24870262	NS	327
ENO2	ENST00000535366	274T	liver	other	80682972	c.668-241A>G	p.?	Unknown	NEUTRAL	.01545	Confirmed somatic variant	PMID: N/A	primary	0
ENO2	ENST00000535366	TCGA-HU-A4H4-01	stomach	carcinoma	80682317	c.1145C>T	p.A382V	Substitution - Missense	PATHOGENIC	.92045	Confirmed somatic variant	PMID: N/A	NS	382
ENO2	ENST00000535366	T613	large_intestine	carcinoma	80681966	c.913T>C	p.S305P	Substitution - Missense	PATHOGENIC	.89931	Confirmed somatic variant	PMID: 27149842	NS	305
ENO2	ENST00000535366	CHG-44T	liver	other	80683021	c.444+39G>T	p.?	Unknown	NEUTRAL	.27145	Confirmed somatic variant	PMID: N/A	primary	0
ENO2	ENST00000535366	TCGA-EE-A2MR-06	skin	malignant_melanoma	80682126	c.333C>T	p.I111=	Substitution - coding silent	PATHOGENIC	.83177	Confirmed somatic variant	PMID: N/A	NS	111
ENO2	ENST00000535366	896LC	lung	carcinoma	80683451	c.1236-4_1236-3del	p.?	Unknown			Confirmed somatic variant	PMID: 26503331	NS	0
ENO2	ENST00000535366	TCGA-BF-A1PU-01	skin	malignant_melanoma	80682307	c.98C>A	p.A33D	Substitution - Missense	PATHOGENIC	.99397	Confirmed somatic variant	PMID: N/A	primary	33
ENO2	ENST00000535366	PCRC12_3C	large_intestine	carcinoma	80683491	c.*4C>G	p.?	Unknown	NEUTRAL	.43563	Confirmed somatic variant	PMID: 30038269	NS	0
ENO2	ENST00000535366	TCGA-D1-A17B-01	endometrium	carcinoma	80682401	c.911G>T	p.W304L	Substitution - Missense	PATHOGENIC	.99484	Confirmed somatic variant	PMID: N/A	primary	304
ENO2	ENST00000535366	YURTHE	skin	malignant_melanoma	80682094	c.221C>T	p.A74V	Substitution - Missense	PATHOGENIC	.98498	Confirmed somatic variant	PMID: 22842228	NS	74
ENO2	ENST00000535366	EW8	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	80682902	c.989G>A	p.R330Q	Substitution - Missense	PATHOGENIC	.8272	Variant of unknown origin	PMID: 25186949	NS	330
ENO2	ENST00000535366	I2L-P19Ta-Tumor-Biopsy	large_intestine	carcinoma	80682110	c.1099del	p.V367Sfs*3	Deletion - Frameshift			Confirmed somatic variant	PMID: 25957691	NS	367
ENO2	ENST00000535366	2014_Lung_sq_51_T	lung	carcinoma	80682158	c.*60C>G	p.?	Unknown	NEUTRAL	.45746	Confirmed somatic variant	PMID: N/A	primary	0
ENO2	ENST00000535366	SNUH_G37_S1	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	80682407	c.1173C>G	p.G391=	Substitution - coding silent		.53194	Confirmed somatic variant	PMID: N/A	NS	391
ENO2	ENST00000535366	TCGA-DK-A3X1-01	urinary_tract	carcinoma	80682708	c.1198C>A	p.R400S	Substitution - Missense	PATHOGENIC	.72347	Confirmed somatic variant	PMID: N/A	NS	400

Showing 1 to 20 of 277 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00113	Enolase_C	Enolase, C-terminal TIM barrel domain	142-432	CL0256	Enolase_TIM	Homo sapiens
PF03952	Enolase_N	Enolase, N-terminal domain	3-134	CL0227	Enolase_N	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of urinary bladder	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.559	0.724
Bladder Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.559	0.724
Non-Small Cell Lung Carcinoma	Neoplasms ; Respiratory Tract Diseases ;	0.559	0.724
Neoplastic Cell Transformation	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.559	0.724
Hepatoma, Morris	Neoplasms ; Digestive System Diseases ;	0.559	0.724
Hepatoma, Novikoff	Neoplasms ; Digestive System Diseases ;	0.559	0.724
Leukemia, Myelocytic, Acute	Neoplasms ;	0.559	0.724
Liver Neoplasms, Experimental	Neoplasms ; Digestive System Diseases ;	0.559	0.724
Acute Myeloid Leukemia, M1	Neoplasms ;	0.559	0.724
Neoplasms, Experimental	Neoplasms ;	0.559	0.724
Schizophrenia	Mental Disorders ;	0.559	0.724
Experimental Hepatoma	Neoplasms ; Digestive System Diseases ;	0.559	0.724
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.559	0.724
NO RESULT FOUND

Description:	enolase 2 [Source:HGNC Symbol;Acc:HGNC:3353]
Synonyms:	HEL-S-279, NSE
Other ID(s):	HGNC:3353, ENSG00000111674
Protein Accession Numbers:	NP_001966, ENST00000535366, ENST00000593874, ENST00000597321, ENST00000544774, ENST00000595469, ENST00000538763, ENST00000601485, ENST00000535275, ENST00000593797, ENST00000596533, ENST00000543975, ENST00000537688, ENST00000594987, ENST00000600792, ENST00000229277, ENST00000545045, ENST00000596089, ENST00000541477
Statistics:	gnomAD(624) COSMIC(277) PTM(35)

Classification of Clinicial Significance of ClinVar Data