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MSeqDR Data Summary for the Term ENSG00000104884:
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
ENSG00000104884 MSeqDR Search EnsemblERCC20049ENSG00000104884ENST00000391945ENSP00000375809excision repair cross-complementing rodent repair deficiency, complementation group 2 [Source:HGNC Symbol;Acc:3434]194585309545874176-1q13.324585309545873876ERCC2ERCC2-001HGNC SymbolHGNC transcript name1456.56protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN20683434ERCC2NM_00040027526


MSeqDR Master Exome Data Set M1: 330 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11945853405CGENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA------het1
21945853413TCENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs2384190.6237-----het81
31945853413TCENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs2384190.6237-----hom111
41945853517C-AAENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA------het180
51945853517C+AENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA------het1
61945853517C-AENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs66886762------het584
71945853517C-AENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs66886762------hom6
81945853536GAENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs1142074790.0203-----het2
91945853660TCENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs200961718--lod=225:548DAMAGINGD-het3
101945853695CAENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA--lod=26:317---het2
111945853846GAENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA-A=1/G=8317;A=17/G=3987;A=18/G=12304----het1
121945853876CTENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA------het1
131945853878GCENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA------het1
141945853886GAENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA-A=3/G=8233;A=1/G=3871;A=4/G=12104----het1
151945853919A-CTENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA--lod=84:443---het1
161945854003CTENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs200512408--lod=16:265---het3
171945854016ACENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs3916901-C=6/A=8278;C=0/A=3970;C=6/A=12248----het2
181945854023CTENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRrs39169000.051T=3/C=8271;T=161/C=3817;T=164/C=12088----het1
191945854024GAENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA-A=3/G=8271;A=0/G=3972;A=3/G=12243----het1
201945854064C-AENST00000391945ENSG000001048844585309545874176ENSP00000375809ERCC2-1ERCC2_HUMAN--3'_UTRNA------het3
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       Transcripts and variants in the surrounding ERCC2 19:45853095..45874176 region Gbrowse