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MSeqDR Data Summary for the Term ESCO2:
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
ENSG00000171320 MSeqDR Search EnsemblESCO20038ENSG00000171320ENST00000523566ENSP00000428435establishment of sister chromatid cohesion N-acetyltransferase 2 [Source:HGNC Symbol;Acc:27230]827629466276701571p21.12762946627634387ESCO2ESCO2-004HGNC SymbolHGNC transcript name837.71protein_codingprotein_codingensembl_havahavanaKNOWNPUTATIVE15757027230ESCO227523


MSeqDR Master Exome Data Set M1: 124 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1827629595GAENST00000523566ENSG000001713202762946627670157ENSP00000428435ESCO21---+10bp 5'_splice_siters18413130.89642-----hom1
2827634064CTENST00000305188ENSG000001713202762946627670157ENSP00000306999ESCO21ESCO2_HUMANc.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhet170
3827634064CTENST00000305188ENSG000001713202762946627670157ENSP00000306999ESCO21ESCO2_HUMANc.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhom10
4827634064CTENST00000397418ENSG000001713202762946627670157ENSP00000380563ESCO21---5'_UTRrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhet170
5827634064CTENST00000397418ENSG000001713202762946627670157ENSP00000380563ESCO21---5'_UTRrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhom10
6827634064CTENST00000519637ENSG000001713202762946627670157ENSP00000428027ESCO21-c.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhet170
7827634064CTENST00000519637ENSG000001713202762946627670157ENSP00000428027ESCO21-c.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhom10
8827634064CTENST00000522378ENSG000001713202762946627670157ENSP00000428928ESCO21-c.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhet170
9827634064CTENST00000522378ENSG000001713202762946627670157ENSP00000428928ESCO21-c.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhom10
10827634064CTENST00000523566ENSG000001713202762946627670157ENSP00000428435ESCO21-c.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhet170
11827634064CTENST00000523566ENSG000001713202762946627670157ENSP00000428435ESCO21-c.239C>Tp.A80Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhom10
12827634064CTENST00000523910ENSG000001713202762946627670157-ESCO21-c.38C>Tp.A13Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhet170
13827634064CTENST00000523910ENSG000001713202762946627670157-ESCO21-c.38C>Tp.A13Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhom10
14827634064CTENST00000524293ENSG000001713202762946627670157-ESCO21-c.257C>Tp.A86Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhet170
15827634064CTENST00000524293ENSG000001713202762946627670157-ESCO21-c.257C>Tp.A86Vnon-synrs47327480.191T=854/C=7746;T=430/C=3976;T=1284/C=11722lod=142:499TOLERATEDBHGMDhom10
16827634150TCENST00000305188ENSG000001713202762946627670157ENSP00000306999ESCO21ESCO2_HUMANc.325T>Cp.C109Rnon-synrs199653554-C=2/T=8598;C=0/T=4406;C=2/T=13004-TOLERATEDD-het3
17827634150TCENST00000397418ENSG000001713202762946627670157ENSP00000380563ESCO21---5'_UTRrs199653554-C=2/T=8598;C=0/T=4406;C=2/T=13004-TOLERATEDD-het3
18827634150TCENST00000519637ENSG000001713202762946627670157ENSP00000428027ESCO21-c.325T>Cp.C109Rnon-synrs199653554-C=2/T=8598;C=0/T=4406;C=2/T=13004-TOLERATEDD-het3
19827634150TCENST00000522378ENSG000001713202762946627670157ENSP00000428928ESCO21-c.325T>Cp.C109Rnon-synrs199653554-C=2/T=8598;C=0/T=4406;C=2/T=13004-TOLERATEDD-het3
20827634150TCENST00000523566ENSG000001713202762946627670157ENSP00000428435ESCO21-c.325T>Cp.C109Rnon-synrs199653554-C=2/T=8598;C=0/T=4406;C=2/T=13004-TOLERATEDD-het3
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       Transcripts and variants in the surrounding ESCO2 8:27629466..27670157 region Gbrowse