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MSeqDR Data Summary for the Term CACNB2:
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
ENSG00000165995 MSeqDR Search EnsemblCACNB20064ENSG00000165995ENST00000324631ENSP00000320025calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]1018429606188307981p12.331842960618830056CACNB2CACNB2-001HGNC SymbolHGNC transcript name1240.47protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN7831402CACNB2NM_20159327525


MSeqDR Master Exome Data Set M1: 663 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11018429608GAENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMAN--5'_UTRrs1825308360.0213-----het7
21018429624CAENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMAN--5'_UTRrs1380942310.0392A=241/C=7377;A=176/C=3484;A=417/C=10861----het52
31018429624CAENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMAN--5'_UTRrs1380942310.0392A=241/C=7377;A=176/C=3484;A=417/C=10861----hom6
41018429630GAENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMAN--5'_UTRrs1890823540.021A=1/G=7989;A=63/G=3891;A=64/G=11880----het8
51018429635GAENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMAN--5'_UTRNA-A=3/G=8171;A=0/G=4094;A=3/G=12265----het1
61018429636GAENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMAN--5'_UTRNA-A=3/G=8209;A=0/G=4142;A=3/G=12351----het5
71018429760CTENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMANc.95C>Tp.A32Vnon-synNA--lod=123:483TOLERATEDB-het1
81018429760CTENST00000352115ENSG000001659951842960618830798ENSP00000344474CACNB21CACB2_HUMANc.95C>Tp.A32Vnon-synNA--lod=123:483TOLERATEDB-het1
91018429760CTENST00000377328ENSG000001659951842960618830798ENSP00000366545CACNB21-c.95C>Tp.A32Vnon-synNA--lod=123:483TOLERATEDB-het1
101018429760CTENST00000467034ENSG000001659951842960618830798-CACNB21-c.40C>Tp.R14Wnon-synNA--lod=123:483TOLERATEDB-het1
111018429760CTENST00000468177ENSG000001659951842960618830798-CACNB21-c.85C>Tp.R29Wnon-synNA--lod=123:483TOLERATEDB-het1
121018429896CTENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN--5'_UTRNA------het1
131018429898CGENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN--5'_UTRNA------het2
141018429966GCENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN--5'_UTRrs1145464130.0342-----het8
151018429981CGENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN--5'_UTRrs1177502990.0218-----het56
161018429981CGENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN--5'_UTRrs1177502990.0218-----hom3
171018430027ACENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN--5'_UTRNA--lod=18:278---het11
181018430072CTENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN--5'_UTRrs1156021100.0187T=0/C=8088;T=45/C=4099;T=45/C=12187----het3
191018439802T+TTNENST00000282343ENSG000001659951842960618830798ENSP00000282343CACNB21CACB2_HUMAN---10bp 3'_splice_siteNA------hom1
201018439802T+TTNENST00000324631ENSG000001659951842960618830798ENSP00000320025CACNB21CACB2_HUMAN---10bp 3'_splice_siteNA------hom1
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       Transcripts and variants in the surrounding CACNB2 10:18429606..18830798 region Gbrowse