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MSeqDR Data Summary for the Term HMGCS2:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000134240 MSeqDR Search EnsemblHMGCS214511ENSG00000134240ENST00000369406ENSP000003584143-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) [Source:HGNC Symbol;Acc:5008]1120290619120311528-1p12120290619120311517HMGCS2HMGCS2-001HGNC SymbolHGNC transcript name441.86protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN31585008HMGCS2NM_00551827511


MSeqDR Master Exome Data Set M1: 38 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11120293430CTENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.1522G>Ap.V508Inon-synrs767739810.00187T=34/C=8566;T=2/C=4404;T=36/C=12970-TOLERATEDB-het8
21120293430CTENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMANc.1396G>Ap.V466Inon-synrs767739810.00187T=34/C=8566;T=2/C=4404;T=36/C=12970-TOLERATEDB-het8
31120295173CTENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.1419G>Ap.K473Ksynrs142776952-T=37/C=8563;T=0/C=4406;T=37/C=12969----hom1
41120295173CTENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.1419G>Ap.K473Ksynrs142776952-T=37/C=8563;T=0/C=4406;T=37/C=12969----het11
51120295173CTENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMANc.1293G>Ap.K431Ksynrs142776952-T=37/C=8563;T=0/C=4406;T=37/C=12969----hom1
61120295173CTENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMANc.1293G>Ap.K431Ksynrs142776952-T=37/C=8563;T=0/C=4406;T=37/C=12969----het11
71120295187GCENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.1405C>Gp.Q469Enon-synNA--lod=117:478TOLERATEDB-het3
81120295187GCENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMANc.1279C>Gp.Q427Enon-synNA--lod=117:478TOLERATEDB-het3
91120295908GAENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.1289C>Tp.A430Vnon-synrs141769037-A=2/G=8598;A=0/G=4406;A=2/G=13004lod=404:611DAMAGINGB-het4
101120295908GAENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMANc.1163C>Tp.A388Vnon-synrs141769037-A=2/G=8598;A=0/G=4406;A=2/G=13004lod=404:611DAMAGINGB-het4
111120295933ATENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.1264T>Ap.S422Tnon-synNA--lod=404:611DAMAGINGP-het1
121120295933ATENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMANc.1138T>Ap.S380Tnon-synNA--lod=404:611DAMAGINGP-het1
131120296024A-TCENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMAN---15bp 3'_splice_siteNA------het1
141120296024A-TCENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMAN---15bp 3'_splice_siteNA------het1
151120298142GCENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.1095C>Gp.D365Enon-synNA--lod=112:473TOLERATEDB-het1
161120298142GCENST00000472375ENSG00000134240120290619120311528-HMGCS2-1-c.542C>Gp.T181Rnon-synNA--lod=112:473TOLERATEDB-het1
171120298142GCENST00000476640ENSG00000134240120290619120311528-HMGCS2-1-c.826C>Gp.Q276Enon-synNA--lod=112:473TOLERATEDB-het1
181120298142GCENST00000544913ENSG00000134240120290619120311528ENSP00000439495HMGCS2-1HMCS2_HUMANc.969C>Gp.D323Enon-synNA--lod=112:473TOLERATEDB-het1
191120300054GAENST00000369406ENSG00000134240120290619120311528ENSP00000358414HMGCS2-1HMCS2_HUMANc.858C>Tp.S286Ssynrs19923760.00653A=72/G=8528;A=13/G=4393;A=85/G=12921----het8
201120300054GAENST00000472375ENSG00000134240120290619120311528-HMGCS2-1-c.305C>Tp.A102Vnon-synrs19923760.00653A=72/G=8528;A=13/G=4393;A=85/G=12921----het8
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       Transcripts and variants in the surrounding HMGCS2 1:120290619..120311528 region Gbrowse