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MSeqDR Data Summary for the Term ERCC6L2:
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
ENSG00000182150 MSeqDR Search EnsemblERCC6L2001ENSG00000182150ENST00000470362excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 [Source:HGNC Symbol;Acc:26922]998637983987768421q22.329870378698734250ERCC6L2ERCC6L2-008HGNC SymbolHGNC transcript name1037.1protein_codingprocessed_transcriptensembl_havahavanaKNOWNKNOWN10192817026922ERCC6L227518


MSeqDR Master Exome Data Set M1: 241 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1998637987TCENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRNA------het1
2998638020TGENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRrs199917784------het1
3998638059GCENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRNA------het3
4998638059GCENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRNA------hom1
5998638084CGENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRNA------het1
6998638134CTENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRrs1912495110.0012-----het2
7998638242TCENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRrs1410718230.0282C=2/T=7854;C=127/T=3877;C=129/T=11731----het1
8998638242TGENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRNA-C=2/T=7854;C=127/T=3877;C=129/T=11731----het5
9998638256CTENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRrs754759510.0708T=3/C=8113;T=309/C=3829;T=312/C=11942----het6
10998638256CTENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMAN--5'_UTRrs754759510.0708T=3/C=8113;T=309/C=3829;T=312/C=11942----hom1
11998638288AGENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.1A>Gp.M1Vnon-synrs6905280.3123G=2502/A=5908;G=561/A=3725;G=3063/A=9633-TOLERATEDNA-het328
12998638288AGENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.1A>Gp.M1Vnon-synrs6905280.3123G=2502/A=5908;G=561/A=3725;G=3063/A=9633-TOLERATEDNA-hom88
13998638306CTENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.19C>Tp.P7Snon-synrs561086230.1521T=721/C=7749;T=115/C=4199;T=836/C=11948-TOLERATEDNA-hom12
14998638306CTENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.19C>Tp.P7Snon-synrs561086230.1521T=721/C=7749;T=115/C=4199;T=836/C=11948-TOLERATEDNA-het118
15998638328CAENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.41C>Ap.P14Qnon-synrs1513084870.0084A=73/C=8451;A=7/C=4327;A=80/C=12778-TOLERATEDB-het8
16998638339CTENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.52C>Tp.Q18*non-synNA---TOLERATEDNA-het1
17998638341GCENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.54G>Cp.Q18Hnon-synrs1392869810.011C=0/G=8510;C=51/G=4301;C=51/G=12811-TOLERATEDB-het1
18998638437TCENST00000466840ENSG000001821509863798398776842-ERCC6L21-c.13T>Cp.C5Rnon-synrs1175996340.00488-----het2
19998638473TCENST00000466840ENSG000001821509863798398776842-ERCC6L21-c.49T>Cp.F17Lnon-synrs1168732030.00476-----het7
20998643402C-CATENST00000288985ENSG000001821509863798398776842ENSP00000288985ERCC6L21RAD26_HUMANc.332_334delp.P111NAnon-synNA--lod=35:349---het1
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       Transcripts and variants in the surrounding ERCC6L2 9:98637983..98776842 region Gbrowse