MSeqDR Central Portal

MSeqDR Data Summary for the Term PMM2:
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
ENSG00000140650 MSeqDR Search EnsemblPMM21042ENSG00000140650ENST00000537352ENSP00000438359phosphomannomutase 2 [Source:HGNC Symbol;Acc:9115]16888268089431881p13.288917248941887PMM2PMM2-201HGNC SymbolHGNC transcript name2046.16protein_codingprotein_codingensembl_havaensemblKNOWNKNOWN53739115PMM227514

MSeqDR Master Exome Data Set M1: 530 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1168889098GAENST00000565837ENSG0000014065088826808943188-PMM21-c.204G>Ap.L68LsynNA------het1
2168889152CGENST00000565837ENSG0000014065088826808943188-PMM21-c.258C>Gp.L86Lsynrs37600260.196-----het160
3168889152CGENST00000565837ENSG0000014065088826808943188-PMM21-c.258C>Gp.L86Lsynrs37600260.196-----hom20
4168889183CTENST00000565837ENSG0000014065088826808943188-PMM21-c.289C>Tp.L97Fnon-synrs37600250.2009-----hom23
5168889183CTENST00000565837ENSG0000014065088826808943188-PMM21-c.289C>Tp.L97Fnon-synrs37600250.2009-----het147
6168889245GAENST00000565837ENSG0000014065088826808943188-PMM21-c.351G>Ap.S117SsynNA------het1
7168889370CTENST00000565837ENSG0000014065088826808943188-PMM21-c.476C>Tp.T159Inon-synNA------het1
8168889467CTENST00000565837ENSG0000014065088826808943188-PMM21-c.573C>Tp.Y191Ysynrs37600240.1872-----het166
9168889467CTENST00000565837ENSG0000014065088826808943188-PMM21-c.573C>Tp.Y191Ysynrs37600240.1872-----hom23
10168891706CTENST00000268261ENSG0000014065088826808943188ENSP00000268261PMM21PMM2_HUMAN--5'_UTRNA------het2
11168891706CTENST00000539622ENSG0000014065088826808943188ENSP00000445879PMM21---5'_UTRNA------het2
12168891706CTENST00000562318ENSG0000014065088826808943188ENSP00000454395PMM21---5'_UTRNA------het2
13168891706CTENST00000562448ENSG0000014065088826808943188-PMM21-c.8C>Tp.T3Mnon-synNA------het2
14168891706CTENST00000564030ENSG0000014065088826808943188-PMM21-c.29C>Tp.T10Mnon-synNA------het2
15168891706CTENST00000565896ENSG0000014065088826808943188ENSP00000456024PMM21---5'_UTRNA------het2
16168891706CTENST00000566196ENSG0000014065088826808943188-PMM21-c.11C>Tp.T4Mnon-synNA------het2
17168891706CTENST00000566540ENSG0000014065088826808943188ENSP00000454284PMM21---5'_UTRNA------het2
18168891706CTENST00000566604ENSG0000014065088826808943188ENSP00000456774PMM21---5'_UTRNA------het2
19168891706CTENST00000568602ENSG0000014065088826808943188ENSP00000455066PMM21---5'_UTRNA------het2
20168891706CTENST00000570134ENSG0000014065088826808943188ENSP00000456275PMM21---5'_UTRNA------het2
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       Transcripts and variants in the surrounding PMM2 16:8882680..8943188 region Gbrowse