{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352532041", "communityStandardTitle": [ "NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676371[alleleid]", "alleleId": 1676371, "preferredName": "NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684442", "RCV": [ "RCV002245448" ], "variationId": 1684442 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.47046719T>A?assembly=hg19", "id": "chr3:g.47046719T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.47005229T>A?assembly=hg38", "id": "chr3:g.47005229T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2107437335", "rs": 2107437335 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 47005229, "referenceAllele": "T", "start": 47005228 } ], "hgvs": [ "NC_000003.12:g.47005229T>A", "CM000665.2:g.47005229T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 47046719, "referenceAllele": "T", "start": 47046718 } ], "hgvs": [ "NC_000003.11:g.47046719T>A", "CM000665.1:g.47046719T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 47021723, "referenceAllele": "T", "start": 47021722 } ], "hgvs": [ "NC_000003.10:g.47021723T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 30547, "referenceAllele": "T", "start": 30546 } ], "hgvs": [ "NG_031914.1:g.30547T>A", "LRG_568:g.30547T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005025" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6664, "referenceAllele": "T", "start": 6663 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000450053.8:c.6468T>A" ], "proteinEffect": { "hgvs": "ENSP00000415034.2:p.Tyr2156Ter", "hgvsWellDefined": "ENSP00000415034.2:p.Tyr2156_Arg2754delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756262", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450053.8:c.6468T>A" }, "RefSeq": { "hgvs": "NM_015175.3:c.6468T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415034.2:p.Tyr2156Ter" }, "RefSeq": { "hgvs": "NP_055990.1:p.Tyr2156Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 86, "referenceAllele": "T", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000651453.1:n.86T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771675" }, { "coordinates": [ { "allele": "A", "end": 6424, "referenceAllele": "T", "start": 6423 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000651747.1:c.6366T>A" ], "proteinEffect": { "hgvs": "ENSP00000499216.1:p.Tyr2122Ter", "hgvsWellDefined": "ENSP00000499216.1:p.Tyr2122_Arg2720delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771835" }, { "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "T", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000416683.5:c.4331T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS284567" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "T", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000441027.5:c.367T>A" ], "proteinEffect": { "hgvs": "ENSP00000409601.1:n.367T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS296183" }, { "coordinates": [ { "allele": "A", "end": 1573, "referenceAllele": "T", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000443829.5:c.1573T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS297530" }, { "coordinates": [ { "allele": "A", "end": 6647, "referenceAllele": "T", "start": 6646 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000450053.7:c.6468T>A" ], "proteinEffect": { "hgvs": "ENSP00000415034.2:p.Tyr2156Ter", "hgvsWellDefined": "ENSP00000415034.2:p.Tyr2156_Arg2754delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300522" }, { "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "T", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000486870.1:n.527T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325572" }, { "@id": "http://reg.genome.network/allele/PA2573264199", "coordinates": [ { "allele": "A", "end": 6647, "referenceAllele": "T", "start": 6646 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_015175.2:c.6468T>A", "LRG_568t1:c.6468T>A" ], "proteinEffect": { "hgvs": "NP_055990.1:p.Tyr2156Ter", "hgvsWellDefined": "NP_055990.1:p.Tyr2156_Arg2754delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033804" }, { "coordinates": [ { "allele": "A", "end": 6419, "referenceAllele": "T", "start": 6418 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_005264992.2:c.6366T>A" ], "proteinEffect": { "hgvs": "XP_005265049.1:p.Tyr2122Ter", "hgvsWellDefined": "XP_005265049.1:p.Tyr2122_Arg2720delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064461" }, { "coordinates": [ { "allele": "A", "end": 3063, "referenceAllele": "T", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_005264993.2:c.2940T>A" ], "proteinEffect": { "hgvs": "XP_005265050.1:p.Tyr980Ter", "hgvsWellDefined": "XP_005265050.1:p.Tyr980_Arg1578delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064462" }, { "coordinates": [ { "allele": "A", "end": 6563, "referenceAllele": "T", "start": 6562 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_006713072.2:c.6387T>A" ], "proteinEffect": { "hgvs": "XP_006713135.1:p.Tyr2129Ter", "hgvsWellDefined": "XP_006713135.1:p.Tyr2129_Arg2727delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069992" }, { "coordinates": [ { "allele": "A", "end": 6500, "referenceAllele": "T", "start": 6499 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533532.1:c.6447T>A" ], "proteinEffect": { "hgvs": "XP_011531834.1:p.Tyr2149Ter", "hgvsWellDefined": "XP_011531834.1:p.Tyr2149_Arg2747delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100553" }, { "coordinates": [ { "allele": "A", "end": 6644, "referenceAllele": "T", "start": 6643 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533533.1:c.6468T>A" ], "proteinEffect": { "hgvs": "XP_011531835.1:p.Tyr2156Ter", "hgvsWellDefined": "XP_011531835.1:p.Tyr2156_Arg2724delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100554" }, { "coordinates": [ { "allele": "A", "end": 6275, "referenceAllele": "T", "start": 6274 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533534.1:c.6099T>A" ], "proteinEffect": { "hgvs": "XP_011531836.1:p.Tyr2033Ter", "hgvsWellDefined": "XP_011531836.1:p.Tyr2033_Arg2631delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100555" }, { "coordinates": [ { "allele": "A", "end": 7221, "referenceAllele": "T", "start": 7220 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533535.1:c.5928T>A" ], "proteinEffect": { "hgvs": "XP_011531837.1:p.Tyr1976Ter", "hgvsWellDefined": "XP_011531837.1:p.Tyr1976_Arg2574delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100556" }, { "coordinates": [ { "allele": "A", "end": 6433, "referenceAllele": "T", "start": 6432 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533536.1:c.5814T>A" ], "proteinEffect": { "hgvs": "XP_011531838.1:p.Tyr1938Ter", "hgvsWellDefined": "XP_011531838.1:p.Tyr1938_Arg2536delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100557" }, { "coordinates": [ { "allele": "A", "end": 5491, "referenceAllele": "T", "start": 5490 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533537.1:c.5376T>A" ], "proteinEffect": { "hgvs": "XP_011531839.1:p.Tyr1792Ter", "hgvsWellDefined": "XP_011531839.1:p.Tyr1792_Arg2390delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100558" }, { "coordinates": [ { "allele": "A", "end": 6644, "referenceAllele": "T", "start": 6643 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XR_940397.1:n.6644T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS135093" }, { "@id": "http://reg.genome.network/allele/PA2828167462", "coordinates": [ { "allele": "A", "end": 6424, "referenceAllele": "T", "start": 6423 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_001365116.1:c.6366T>A" ], "proteinEffect": { "hgvs": "NP_001352045.1:p.Tyr2122Ter", "hgvsWellDefined": "NP_001352045.1:p.Tyr2122_Arg2720delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524029" }, { "coordinates": [ { "allele": "A", "end": 6563, "referenceAllele": "T", "start": 6562 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_006713072.3:c.6387T>A" ], "proteinEffect": { "hgvs": "XP_006713135.1:p.Tyr2129Ter", "hgvsWellDefined": "XP_006713135.1:p.Tyr2129_Arg2727delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538422" }, { "coordinates": [ { "allele": "A", "end": 6644, "referenceAllele": "T", "start": 6643 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533533.2:c.6468T>A" ], "proteinEffect": { "hgvs": "XP_011531835.1:p.Tyr2156Ter", "hgvsWellDefined": "XP_011531835.1:p.Tyr2156_Arg2724delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551286" }, { "coordinates": [ { "allele": "A", "end": 6644, "referenceAllele": "T", "start": 6643 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006010.1:c.6468T>A" ], "proteinEffect": { "hgvs": "XP_016861499.1:p.Tyr2156Ter", "hgvsWellDefined": "XP_016861499.1:p.Tyr2156_Tyr2782delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561134" }, { "coordinates": [ { "allele": "A", "end": 6500, "referenceAllele": "T", "start": 6499 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006011.1:c.6447T>A" ], "proteinEffect": { "hgvs": "XP_016861500.1:p.Tyr2149Ter", "hgvsWellDefined": "XP_016861500.1:p.Tyr2149_Tyr2775delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561135" }, { "coordinates": [ { "allele": "A", "end": 6563, "referenceAllele": "T", "start": 6562 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006012.1:c.6387T>A" ], "proteinEffect": { "hgvs": "XP_016861501.1:p.Tyr2129Ter", "hgvsWellDefined": "XP_016861501.1:p.Tyr2129_Tyr2755delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561136" }, { "coordinates": [ { "allele": "A", "end": 6644, "referenceAllele": "T", "start": 6643 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006013.1:c.6468T>A" ], "proteinEffect": { "hgvs": "XP_016861502.1:p.Tyr2156Ter", "hgvsWellDefined": "XP_016861502.1:p.Tyr2156_Tyr2752delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561137" }, { "coordinates": [ { "allele": "A", "end": 6419, "referenceAllele": "T", "start": 6418 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006014.1:c.6366T>A" ], "proteinEffect": { "hgvs": "XP_016861503.1:p.Tyr2122Ter", "hgvsWellDefined": "XP_016861503.1:p.Tyr2122_Tyr2748delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561138" }, { "coordinates": [ { "allele": "A", "end": 6275, "referenceAllele": "T", "start": 6274 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006015.1:c.6099T>A" ], "proteinEffect": { "hgvs": "XP_016861504.1:p.Tyr2033Ter", "hgvsWellDefined": "XP_016861504.1:p.Tyr2033_Tyr2659delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561139" }, { "coordinates": [ { "allele": "A", "end": 7221, "referenceAllele": "T", "start": 7220 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006016.1:c.5928T>A" ], "proteinEffect": { "hgvs": "XP_016861505.1:p.Tyr1976Ter", "hgvsWellDefined": "XP_016861505.1:p.Tyr1976_Tyr2602delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561140" }, { "coordinates": [ { "allele": "A", "end": 3063, "referenceAllele": "T", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006017.1:c.2940T>A" ], "proteinEffect": { "hgvs": "XP_016861506.1:p.Tyr980Ter", "hgvsWellDefined": "XP_016861506.1:p.Tyr980_Tyr1606delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561141" }, { "coordinates": [ { "allele": "A", "end": 6644, "referenceAllele": "T", "start": 6643 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XR_940397.2:n.6644T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS612634" }, { "@id": "http://reg.genome.network/allele/PA2828167462", "coordinates": [ { "allele": "A", "end": 6424, "referenceAllele": "T", "start": 6423 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_001365116.2:c.6366T>A" ], "proteinEffect": { "hgvs": "NP_001352045.1:p.Tyr2122Ter", "hgvsWellDefined": "NP_001352045.1:p.Tyr2122_Arg2720delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690983" }, { "@id": "http://reg.genome.network/allele/PA2573264199", "coordinates": [ { "allele": "A", "end": 6664, "referenceAllele": "T", "start": 6663 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_015175.3:c.6468T>A" ], "proteinEffect": { "hgvs": "NP_055990.1:p.Tyr2156Ter", "hgvsWellDefined": "NP_055990.1:p.Tyr2156_Arg2754delinsGlyThrHisTyrSerAsnAlaAlaGlyValMetHisTyrLeuIleArgValGluProPheThrSerLeuHisValGlnLeuGlnSerGlyArgPheAspCysSerAspArgGlnPheHisSerValAlaAlaAlaTrpGlnAlaArgLeuGluSerProAlaAspValLysGluLeuIleProGluPhePheTyrPheProAspPheLeuGluAsnGlnAsnGlyPheAspLeuGlyCysLeuGlnLeuThrAsnGluLysValGlyAspValValLeuProProTrpAlaSerSerProGluAspPheIleGlnGlnHisArgGlnAlaLeuGluSerGluTyrValSerAlaHisLeuHisGluTrpIleAspLeuIlePheGlyTyrLysGlnArgGlyProAlaAlaGluGluAlaLeuAsnValPheTyrTyrCysThrTyrGluGlyAlaValAspLeuAspHisValThrAspGluArgGluArgLysAlaLeuGluGlyIleIleSerAsnPheGlyGlnThrProCysGlnLeuLeuLysGluProHisProThrArgLeuSerAlaGluGluAlaAlaHisArgLeuAlaArgLeuAspThrAsnSerProSerIlePheGlnHisLeuAspGluLeuLysAlaPhePheAlaGluValValSerAspGlyValProLeuValLeuAlaLeuValProHisArgGlnProHisSerPheIleThrGlnGlySerProAspLeuLeuValThrValSerAlaSerGlyLeuLeuGlyThrHisSerTrpLeuProTyrAspArgAsnIleSerAsnTyrPheSerPheSerLysAspProThrMetGlySerHisLysThrGlnArgLeuLeuSerGlyProTrpValProGlySerGlyValSerGlyGlnAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697460", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450053.8:c.6468T>A" }, "RefSeq": { "hgvs": "NM_015175.3:c.6468T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415034.2:p.Tyr2156Ter" }, "RefSeq": { "hgvs": "NP_055990.1:p.Tyr2156Ter" } } } } ], "type": "nucleotide" }