ConVarT

ENO2 (GeneID: 2026) | Homo sapiens

Description:	enolase 2 [Source:HGNC Symbol;Acc:HGNC:3353]
Synonyms:	HEL-S-279, NSE
Other ID(s):	HGNC:3353, ENSG00000111674
Protein Accession Numbers:	ENST00000535366, ENST00000593874, NP_001966, ENST00000544774, ENST00000597321, ENST00000538763, ENST00000595469, ENST00000535275, ENST00000593797, ENST00000601485, ENST00000543975, ENST00000596533, ENST00000537688, ENST00000594987, ENST00000229277, ENST00000545045, ENST00000600792, ENST00000541477, ENST00000596089
Statistics:	gnomAD(77)

gnomAD Variants By Annotation

Incomplete Terminal Codon Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000535275 ENST00000535366 ENST00000537688 ENST00000538763 ENST00000541477 ENST00000543975 ENST00000544774 ENST00000545045 ENST00000593797 ENST00000593874 ENST00000594987 ENST00000595469 ENST00000596089 ENST00000596533 ENST00000597321 ENST00000600792 ENST00000601485 NP_001966 ">ENST00000229277

ClinVar Data

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

gnomAD

Incomplete Terminal Codon Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
12-7025004-T-C	ENST00000537688	p.Ile3Thr	Missense Variant	0	0	0	rs782353734
12-7025005-A-G	ENST00000537688	p.Ile3Met	Missense Variant	0	0	0
12-7025013-T-A	ENST00000537688	p.Ile6Asn	Missense Variant	1	31326	0.000032
12-7025019-C-A	ENST00000537688	p.Ala8Asp	Missense Variant	0	0	0
12-7025020-C-T	ENST00000537688	p.Ala8Ala	Synonymous Variant	0	0	0
12-7025026-G-A	ENST00000537688	p.Glu10Glu	Synonymous Variant	0	0	0	rs782594480
12-7025028-T-C	ENST00000537688	p.Ile11Thr	Missense Variant	0	0	0	rs782253860
12-7025032-G-C	ENST00000537688	p.Leu12Leu	Synonymous Variant	0	0	0	rs782430511
12-7025040-G-A	ENST00000537688	p.Arg15His	Missense Variant	0	0	0
12-7025050-C-T	ENST00000537688	p.Pro18Pro	Synonymous Variant	0	0	0	rs372833368
12-7025057-G-C	ENST00000537688	p.Glu21Gln	Missense Variant	0	0	0	rs782070766
12-7025060-G-A	ENST00000537688	p.Val22Met	Missense Variant	0	0	0	rs782309040
12-7025069-T-C	ENST00000537688	p.Tyr25His	Missense Variant	0	0	0	rs377123918
12-7025070-A-G	ENST00000537688	p.Tyr25Cys	Missense Variant	1	31356	0.000032
12-7025071-T-C	ENST00000537688	p.Tyr25Tyr	Synonymous Variant	1	31362	0.000032
12-7025074-T-C	ENST00000537688	p.Thr26Thr	Synonymous Variant	1	31354	0.000032
12-7025581-G-A	ENST00000537688	p.Gly29Asp	Missense Variant	1	31362	0.000032
12-7025587-T-C	ENST00000537688	p.Phe31Ser	Missense Variant	1	31376	0.000032	rs782000114
12-7025587-T-G	ENST00000537688	p.Phe31Cys	Missense Variant	0	0	0	rs782000114
12-7025589-C-T	ENST00000537688	p.Arg32Trp	Missense Variant	4	31370	0.000128	rs202059850

Showing 1 to 20 of 77 entries

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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	95-313	CL0256	Enolase_TIM	Mus musculus
PF03952	Enolase_N	Enolase, N-terminal domain	3-108	CL0227	Enolase_N	Mus musculus

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