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MSeqDR Data Summary for the Term LAMB2:
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
ENSG00000172037 MSeqDR Search EnsemblLAMB20013ENSG00000172037ENST00000542580laminin, beta 2 (laminin S) [Source:HGNC Symbol;Acc:6487]34915854749170551-1p21.314916187649162637LAMB2LAMB2-019HGNC SymbolHGNC transcript name1957.34protein_codingretained_intronensembl_havahavanaKNOWNKNOWN39136487LAMB227517


MSeqDR Master Exome Data Set M1: 304 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1349158670TGENST00000305544ENSG000001720374915854749170551ENSP00000307156LAMB2-1LAMB2_HUMANc.5386A>Cp.T1796Pnon-synrs200838685--lod=327:588DAMAGINGD-het26
2349158670TGENST00000305544ENSG000001720374915854749170551ENSP00000307156LAMB2-1LAMB2_HUMANc.5386A>Cp.T1796Pnon-synrs200838685--lod=327:588DAMAGINGD-hom1
3349158670TGENST00000418109ENSG000001720374915854749170551ENSP00000388325LAMB2-1LAMB2_HUMANc.5386A>Cp.T1796Pnon-synrs200838685--lod=327:588DAMAGINGD-het26
4349158670TGENST00000418109ENSG000001720374915854749170551ENSP00000388325LAMB2-1LAMB2_HUMANc.5386A>Cp.T1796Pnon-synrs200838685--lod=327:588DAMAGINGD-hom1
5349158670TGENST00000467506ENSG000001720374915854749170551-LAMB2-1-c.566A>Cp.H189Pnon-synrs200838685--lod=327:588DAMAGINGD-het26
6349158670TGENST00000467506ENSG000001720374915854749170551-LAMB2-1-c.566A>Cp.H189Pnon-synrs200838685--lod=327:588DAMAGINGD-hom1
7349158670TGENST00000484713ENSG000001720374915854749170551-LAMB2-1-c.290A>Cp.H97Pnon-synrs200838685--lod=327:588DAMAGINGD-het26
8349158670TGENST00000484713ENSG000001720374915854749170551-LAMB2-1-c.290A>Cp.H97Pnon-synrs200838685--lod=327:588DAMAGINGD-hom1
9349158677GCENST00000305544ENSG000001720374915854749170551ENSP00000307156LAMB2-1LAMB2_HUMANc.5379C>Gp.I1793Mnon-synrs11550620-C=2/G=8598;C=0/G=4406;C=2/G=13004lod=327:588DAMAGINGP-het1
10349158677GCENST00000418109ENSG000001720374915854749170551ENSP00000388325LAMB2-1LAMB2_HUMANc.5379C>Gp.I1793Mnon-synrs11550620-C=2/G=8598;C=0/G=4406;C=2/G=13004lod=327:588DAMAGINGP-het1
11349158677GCENST00000467506ENSG000001720374915854749170551-LAMB2-1-c.559C>Gp.L187Vnon-synrs11550620-C=2/G=8598;C=0/G=4406;C=2/G=13004lod=327:588DAMAGINGP-het1
12349158677GCENST00000484713ENSG000001720374915854749170551-LAMB2-1-c.283C>Gp.L95Vnon-synrs11550620-C=2/G=8598;C=0/G=4406;C=2/G=13004lod=327:588DAMAGINGP-het1
13349158763CTENST00000305544ENSG000001720374915854749170551ENSP00000307156LAMB2-1LAMB2_HUMANc.5293G>Ap.A1765Tnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-het56
14349158763CTENST00000305544ENSG000001720374915854749170551ENSP00000307156LAMB2-1LAMB2_HUMANc.5293G>Ap.A1765Tnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-hom1
15349158763CTENST00000418109ENSG000001720374915854749170551ENSP00000388325LAMB2-1LAMB2_HUMANc.5293G>Ap.A1765Tnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-het56
16349158763CTENST00000418109ENSG000001720374915854749170551ENSP00000388325LAMB2-1LAMB2_HUMANc.5293G>Ap.A1765Tnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-hom1
17349158763CTENST00000467506ENSG000001720374915854749170551-LAMB2-1-c.473G>Ap.G158Dnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-het56
18349158763CTENST00000467506ENSG000001720374915854749170551-LAMB2-1-c.473G>Ap.G158Dnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-hom1
19349158763CTENST00000484713ENSG000001720374915854749170551-LAMB2-1-c.197G>Ap.G66Dnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-het56
20349158763CTENST00000484713ENSG000001720374915854749170551-LAMB2-1-c.197G>Ap.G66Dnon-synrs749513560.037T=255/C=8345;T=21/C=4385;T=276/C=12730-TOLERATEDB-hom1
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       Transcripts and variants in the surrounding LAMB2 3:49158547..49170551 region Gbrowse