{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381461143", "communityStandardTitle": [ "NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324001[alleleid]", "alleleId": 1324001, "preferredName": "NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1333225", "RCV": [ "RCV001807913" ], "variationId": 1333225 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.66456627G>A?assembly=hg19", "id": "chr11:g.66456627G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.66689156G>A?assembly=hg38", "id": "chr11:g.66689156G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2135319250", "rs": 2135319250 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-66689156-G-A?dataset=gnomad_r4", "id": "11-66689156-G-A", "variant": "11:66689156 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 66689156, "referenceAllele": "G", "start": 66689155 } ], "hgvs": [ "NC_000011.10:g.66689156G>A", "CM000673.2:g.66689156G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 66456627, "referenceAllele": "G", "start": 66456626 } ], "hgvs": [ "NC_000011.9:g.66456627G>A", "CM000673.1:g.66456627G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 66213203, "referenceAllele": "G", "start": 66213202 } ], "hgvs": [ "NC_000011.8:g.66213203G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 37244, "referenceAllele": "C", "start": 37243 } ], "hgvs": [ "NG_016150.1:g.37244C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002979" }, { "coordinates": [ { "allele": "T", "end": 45206, "referenceAllele": "C", "start": 45205 } ], "hgvs": [ "NG_016150.2:g.45206C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616214" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6482, "referenceAllele": "C", "start": 6481 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000309996.7:c.5974C>T" ], "proteinEffect": { "hgvs": "ENSP00000311489.2:p.Gln1992Ter", "hgvsWellDefined": "ENSP00000311489.2:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823796" }, { "coordinates": [ { "allele": "T", "end": 6577, "referenceAllele": "C", "start": 6576 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000611817.5:c.5974C>T" ], "proteinEffect": { "hgvs": "ENSP00000480692.2:p.Gln1992Ter", "hgvsWellDefined": "ENSP00000480692.2:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826411" }, { "coordinates": [ { "allele": "T", "end": 6247, "referenceAllele": "C", "start": 6246 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000617502.5:c.5995C>T" ], "proteinEffect": { "hgvs": "ENSP00000482000.2:p.Gln1999Ter", "hgvsWellDefined": "ENSP00000482000.2:p.Gln1999_Lys2397delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826498" }, { "coordinates": [ { "allele": "T", "end": 6659, "referenceAllele": "C", "start": 6658 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000647510.2:c.5974C>T" ], "proteinEffect": { "hgvs": "ENSP00000508362.1:p.Gln1992Ter", "hgvsWellDefined": "ENSP00000508362.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826758" }, { "coordinates": [ { "allele": "T", "end": 6563, "referenceAllele": "C", "start": 6562 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000533211.6:c.5974C>T" ], "proteinEffect": { "hgvs": "ENSP00000432568.1:p.Gln1992Ter", "hgvsWellDefined": "ENSP00000432568.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759327", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000533211.6:c.5974C>T" }, "RefSeq": { "hgvs": "NM_006946.4:c.5974C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000432568.1:p.Gln1992Ter" }, "RefSeq": { "hgvs": "NP_008877.2:p.Gln1992Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6501, "referenceAllele": "C", "start": 6500 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000647510.1:n.6501C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769455" }, { "coordinates": [ { "allele": "T", "end": 6046, "referenceAllele": "C", "start": 6045 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000309996.6:c.5974C>T" ], "proteinEffect": { "hgvs": "ENSP00000311489.2:p.Gln1992Ter", "hgvsWellDefined": "ENSP00000311489.2:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256299" }, { "coordinates": [ { "allele": "T", "end": 5974, "referenceAllele": "C", "start": 5973 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000529997.5:c.5974C>T" ], "proteinEffect": { "hgvs": "ENSP00000433593.1:p.Gln1992Ter", "hgvsWellDefined": "ENSP00000433593.1:p.Gln1992_Val2365delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluValSerCysProSerCysSerSerLeuSerValProPheGlnLysLeuProAlaAlaAspSerProSerPheProValLeuProLeuPheProGlyLeuValLeuCysGlyLysThrGlyCysValArgArgProHisGlnAlaAlaLeuProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS355320" }, { "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000532902.1:n.484C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357751" }, { "coordinates": [ { "allele": "T", "end": 6306, "referenceAllele": "C", "start": 6305 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000533211.5:c.5974C>T" ], "proteinEffect": { "hgvs": "ENSP00000432568.1:p.Gln1992Ter", "hgvsWellDefined": "ENSP00000432568.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS358020" }, { "coordinates": [ { "allele": "T", "end": 1897, "endIntronDirection": "-", "endIntronOffset": 494, "referenceAllele": "C", "start": 1897, "startIntronDirection": "-", "startIntronOffset": 495 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000611817.4:c.1855-495C>T" ], "proteinEffect": { "hgvs": "ENSP00000480692.1:n.1855-495C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS401027" }, { "coordinates": [ { "allele": "T", "end": 1923, "endIntronDirection": "+", "endIntronOffset": 195, "referenceAllele": "C", "start": 1923, "startIntronDirection": "+", "startIntronOffset": 194 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "ENST00000617502.4:c.1851+195C>T" ], "proteinEffect": { "hgvs": "ENSP00000482000.1:n.1851+195C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS403508" }, { "coordinates": [ { "allele": "T", "end": 6046, "referenceAllele": "C", "start": 6045 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "NM_006946.2:c.5974C>T" ], "proteinEffect": { "hgvs": "NP_008877.1:p.Gln1992Ter", "hgvsWellDefined": "NP_008877.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031918" }, { "coordinates": [ { "allele": "T", "end": 6584, "referenceAllele": "C", "start": 6583 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_005274192.3:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_005274249.1:p.Gln1992Ter", "hgvsWellDefined": "XP_005274249.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067859" }, { "coordinates": [ { "allele": "T", "end": 6482, "referenceAllele": "C", "start": 6481 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_005274193.3:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_005274250.1:p.Gln1992Ter", "hgvsWellDefined": "XP_005274250.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067860" }, { "coordinates": [ { "allele": "T", "end": 6247, "referenceAllele": "C", "start": 6246 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_006718669.2:c.5995C>T" ], "proteinEffect": { "hgvs": "XP_006718732.1:p.Gln1999Ter", "hgvsWellDefined": "XP_006718732.1:p.Gln1999_Lys2397delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072743" }, { "coordinates": [ { "allele": "T", "end": 6110, "referenceAllele": "C", "start": 6109 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_006718671.2:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_006718734.1:p.Gln1992Ter", "hgvsWellDefined": "XP_006718734.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072744" }, { "coordinates": [ { "allele": "T", "end": 6046, "referenceAllele": "C", "start": 6045 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "NM_006946.3:c.5974C>T" ], "proteinEffect": { "hgvs": "NP_008877.1:p.Gln1992Ter", "hgvsWellDefined": "NP_008877.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525440" }, { "coordinates": [ { "allele": "T", "end": 6708, "referenceAllele": "C", "start": 6707 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_005274192.4:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_005274249.1:p.Gln1992Ter", "hgvsWellDefined": "XP_005274249.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537569" }, { "coordinates": [ { "allele": "T", "end": 8395, "referenceAllele": "C", "start": 8394 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_006718669.3:c.5995C>T" ], "proteinEffect": { "hgvs": "XP_006718732.1:p.Gln1999Ter", "hgvsWellDefined": "XP_006718732.1:p.Gln1999_Lys2397delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539676" }, { "coordinates": [ { "allele": "T", "end": 6109, "referenceAllele": "C", "start": 6108 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_006718671.4:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_006718734.1:p.Gln1992Ter", "hgvsWellDefined": "XP_006718734.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539677" }, { "coordinates": [ { "allele": "T", "end": 6800, "referenceAllele": "C", "start": 6799 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_017018174.1:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_016873663.1:p.Gln1992Ter", "hgvsWellDefined": "XP_016873663.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570178" }, { "coordinates": [ { "allele": "T", "end": 6430, "referenceAllele": "C", "start": 6429 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_017018175.2:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_016873664.1:p.Gln1992Ter", "hgvsWellDefined": "XP_016873664.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570179" }, { "coordinates": [ { "allele": "T", "end": 6149, "referenceAllele": "C", "start": 6148 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_017018176.1:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_016873665.1:p.Gln1992Ter", "hgvsWellDefined": "XP_016873665.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570180" }, { "coordinates": [ { "allele": "T", "end": 6339, "referenceAllele": "C", "start": 6338 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_017018177.2:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_016873666.1:p.Gln1992Ter", "hgvsWellDefined": "XP_016873666.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570181" }, { "coordinates": [ { "allele": "T", "end": 6021, "referenceAllele": "C", "start": 6020 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "XM_017018178.1:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_016873667.1:p.Gln1992Ter", "hgvsWellDefined": "XP_016873667.1:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570182" }, { "@id": "http://reg.genome.network/allele/PA2573089386", "coordinates": [ { "allele": "T", "end": 6563, "referenceAllele": "C", "start": 6562 } ], "gene": "http://reg.genome.network/gene/GN011276", "geneNCBI_id": 6712, "geneSymbol": "SPTBN2", "hgvs": [ "NM_006946.4:c.5974C>T" ], "proteinEffect": { "hgvs": "NP_008877.2:p.Gln1992Ter", "hgvsWellDefined": "NP_008877.2:p.Gln1992_Lys2390delinsAlaArgArgGlnGluThrAlaGluLysTrpGlnGluLysMetAspTrpLeuGlnLeuValLeuGluValLeuValPheGlyArgAspAlaGlyMetAlaGluAlaTrpLeuCysSerGlnGluProLeuValArgSerAlaGluLeuGlyCysThrValAspGluValGluSerLeuIleLysArgHisGluAlaPheGlnLysSerAlaValAlaTrpGluGluArgPheCysAlaLeuGluLysLeuThrAlaLeuGluGluArgGluLysGluArgLysArgLysArgGluGluGluGluArgArgLysGlnProProAlaProGluProThrAlaSerValProProGlyAspLeuValGlyGlyGlnThrAlaSerAspThrThrTrpAspGlyThrGlnProArgProProProSerThrGlnAlaProSerValAsnGlyValCysThrAspGlyGluProSerGlnProLeuLeuGlyGlnGlnArgLeuGluHisSerSerPheProGluGlyProGlyProGlySerGlyAspGluAlaAsnGlyProArgGlyGluArgGlnThrArgThrArgGlyProAlaProSerAlaMetProGlnSerArgSerThrGluSerAlaHisAlaAlaThrLeuProProArgGlyProGluProSerAlaGlnGluGlnMetGluGlyMetLeuCysArgLysGlnGluMetGluAlaPheGlyLysLysAlaAlaAsnArgSerTrpGlnAsnValTyrCysValLeuArgArgGlySerLeuGlyPheTyrLysAspAlaLysAlaAlaSerAlaGlyValProTyrHisGlyGluValProValSerLeuAlaArgAlaGlnGlySerValAlaPheAspTyrArgLysArgLysHisValPheLysLeuGlyLeuGlnAspGlyLysGluTyrLeuPheGlnAlaLysAspGluAlaGluMetSerSerTrpLeuArgValValAsnAlaAlaIleAlaThrAlaSerSerAlaSerGlyGluProGluGluProValValProSerThrThrArgGlyMetThrArgAlaMetThrMetProProValSerProValGlyAlaGluGlyProValValLeuArgSerLysAspGlyArgGluArgGluArgGluLysArgPheSerPhePheLysLysAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000533211.6:c.5974C>T" }, "RefSeq": { "hgvs": "NM_006946.4:c.5974C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000432568.1:p.Gln1992Ter" }, "RefSeq": { "hgvs": "NP_008877.2:p.Gln1992Ter" } } } } ], "type": "nucleotide" }