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MSeqDR Data Summary for the Term NDUFA2:
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
ENSG00000131495 MSeqDR Search EnsemblNDUFA21114ENSG00000131495ENST00000510680NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa [Source:HGNC Symbol;Acc:7685]5140018325140027370-1q31.3140018325140026899NDUFA2NDUFA2-007HGNC SymbolHGNC transcript name450.9protein_codingprocessed_transcriptensembl_havahavanaKNOWNPUTATIVE46957685NDUFA227527


MSeqDR Master Exome Data Set M1: 36 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
15140018378CTENST00000510680ENSG00000131495140018325140027370-NDUFA2-1-c.523G>Ap.A175Tnon-synrs49127180.507-----het5
25140018378CTENST00000510680ENSG00000131495140018325140027370-NDUFA2-1-c.523G>Ap.A175Tnon-synrs49127180.507-----hom3
35140025241GAENST00000252102ENSG00000131495140018325140027370ENSP00000252102NDUFA2-1NDUA2_HUMANc.231C>Tp.V77Vsynrs1380592030.0127A=0/G=8600;A=29/G=4377;A=29/G=12977lod=122:483---het1
45140025241GAENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.539C>Tp.S180Fnon-synrs1380592030.0127A=0/G=8600;A=29/G=4377;A=29/G=12977lod=122:483---het1
55140025241GAENST00000512088ENSG00000131495140018325140027370ENSP00000427220NDUFA2-1NDUA2_HUMAN--3'_UTRrs1380592030.0127A=0/G=8600;A=29/G=4377;A=29/G=12977lod=122:483---het1
65140025291AGENST00000512088ENSG00000131495140018325140027370ENSP00000427220NDUFA2-1NDUA2_HUMANc.228T>Cp.S76SsynNA-G=2/A=8598;G=1/A=4405;G=3/A=13003----het2
75140026823CTENST00000252102ENSG00000131495140018325140027370ENSP00000252102NDUFA2-1NDUA2_HUMAN--+18bp 5'_splice_siters1888021670.0032T=0/C=8600;T=51/C=4355;T=51/C=12955----het1
85140026823CTENST00000502960ENSG00000131495140018325140027370-NDUFA2-1---+18bp 5'_splice_siters1888021670.0032T=0/C=8600;T=51/C=4355;T=51/C=12955----het1
95140026823CTENST00000510680ENSG00000131495140018325140027370-NDUFA2-1---+18bp 5'_splice_siters1888021670.0032T=0/C=8600;T=51/C=4355;T=51/C=12955----het1
105140026823CTENST00000512088ENSG00000131495140018325140027370ENSP00000427220NDUFA2-1NDUA2_HUMAN--+18bp 5'_splice_siters1888021670.0032T=0/C=8600;T=51/C=4355;T=51/C=12955----het1
115140027022ACENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.335T>Gp.V112Gnon-synNA--lod=26:317---het8
125140027038GCENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.319C>Gp.L107Vnon-synNA------het2
135140027041CTENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.316G>Ap.G106Rnon-synrs200503970-T=1/C=8593;T=49/C=4351;T=50/C=12944----het1
145140027041CTENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.316G>Ap.G106Rnon-synrs200503970-T=1/C=8593;T=49/C=4351;T=50/C=12944----hom1
155140027042GCENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.315C>Gp.G105GsynNA--lod=15:259---het3
165140027056GTENST00000252102ENSG00000131495140018325140027370ENSP00000252102NDUFA2-1NDUA2_HUMAN--+12bp 5'_splice_siteNA------het1
175140027056GTENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.301C>Ap.R101Snon-synNA------het1
185140027056GTENST00000512088ENSG00000131495140018325140027370ENSP00000427220NDUFA2-1NDUA2_HUMAN--+12bp 5'_splice_siteNA------het1
195140027129GCENST00000252102ENSG00000131495140018325140027370ENSP00000252102NDUFA2-1NDUA2_HUMANc.40C>Gp.L14Vnon-synrs35672074-C=17/G=8583;C=0/G=4404;C=17/G=12987-TOLERATEDB-het3
205140027129GCENST00000502960ENSG00000131495140018325140027370-NDUFA2-1-c.228C>Gp.S76Rnon-synrs35672074-C=17/G=8583;C=0/G=4404;C=17/G=12987-TOLERATEDB-het3
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       Transcripts and variants in the surrounding NDUFA2 5:140018325..140027370 region Gbrowse