{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA145314", "communityStandardTitle": [ "NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94306[alleleid]", "alleleId": 94306, "preferredName": "NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88729", "RCV": [ "RCV000074388" ], "variationId": 88729 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.9858572G>C?assembly=hg19", "id": "chr16:g.9858572G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.9764715G>C?assembly=hg38", "id": "chr16:g.9764715G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397518467", "rs": 397518467 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 9764715, "referenceAllele": "G", "start": 9764714 } ], "hgvs": [ "NC_000016.10:g.9764715G>C", "CM000678.2:g.9764715G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 9858572, "referenceAllele": "G", "start": 9858571 } ], "hgvs": [ "NC_000016.9:g.9858572G>C", "CM000678.1:g.9858572G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 9766073, "referenceAllele": "G", "start": 9766072 } ], "hgvs": [ "NC_000016.8:g.9766073G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 423040, "referenceAllele": "C", "start": 423039 } ], "hgvs": [ "NG_011812.1:g.423040C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001995" }, { "coordinates": [ { "allele": "G", "end": 423040, "referenceAllele": "C", "start": 423039 } ], "hgvs": [ "NG_011812.2:g.423040C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673563" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3399, "referenceAllele": "C", "start": 3398 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000330684.4:c.2829C>G" ], "proteinEffect": { "hgvs": "ENSP00000332549.3:p.Tyr943Ter", "hgvsWellDefined": "ENSP00000332549.3:p.Tyr943_Val1464delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747087", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000330684.4:c.2829C>G" }, "RefSeq": { "hgvs": "NM_001134407.3:c.2829C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332549.3:p.Tyr943Ter" }, "RefSeq": { "hgvs": "NP_001127879.1:p.Tyr943Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000535259.6:c.2358C>G" ], "proteinEffect": { "hgvs": "ENSP00000441572.3:p.Tyr786Ter", "hgvsWellDefined": "ENSP00000441572.3:p.Tyr786_Arg1124delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyMetThrAsnAlaTrpLeuLeuGlyAspAlaProArgThrLeuThrAsnThrArgCysHisProArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759434" }, { "coordinates": [ { "allele": "G", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000636273.2:n.2422C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763001" }, { "coordinates": [ { "allele": "G", "end": 2664, "referenceAllele": "C", "start": 2663 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000674742.1:c.2358C>G" ], "proteinEffect": { "hgvs": "ENSP00000502200.1:p.Tyr786Ter", "hgvsWellDefined": "ENSP00000502200.1:p.Tyr786_Val1307delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774663" }, { "coordinates": [ { "allele": "G", "end": 3043, "referenceAllele": "C", "start": 3042 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000675398.1:c.*199C>G" ], "proteinEffect": { "hgvs": "ENSP00000502752.1:n.*199C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS775223" }, { "coordinates": [ { "allele": "G", "end": 3377, "referenceAllele": "C", "start": 3376 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000330684.3:c.2829C>G" ], "proteinEffect": { "hgvs": "ENSP00000332549.3:p.Tyr943Ter", "hgvsWellDefined": "ENSP00000332549.3:p.Tyr943_Val1464delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259276" }, { "coordinates": [ { "allele": "G", "end": 3139, "referenceAllele": "C", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000396573.6:c.2829C>G" ], "proteinEffect": { "hgvs": "ENSP00000379818.2:p.Tyr943Ter", "hgvsWellDefined": "ENSP00000379818.2:p.Tyr943_Val1464delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277333" }, { "coordinates": [ { "allele": "G", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000396575.6:c.2418C>G" ], "proteinEffect": { "hgvs": "ENSP00000379820.3:p.Tyr806Ter", "hgvsWellDefined": "ENSP00000379820.3:p.Tyr806_Val1327delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277334" }, { "coordinates": [ { "allele": "G", "end": 2468, "referenceAllele": "C", "start": 2467 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000461292.3:n.2468C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS305835" }, { "coordinates": [ { "allele": "G", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000535259.5:c.2418C>G" ], "proteinEffect": { "hgvs": "ENSP00000441572.2:p.Tyr806Ter", "hgvsWellDefined": "ENSP00000441572.2:p.Tyr806_Arg1144delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyMetThrAsnAlaTrpLeuLeuGlyAspAlaProArgThrLeuThrAsnThrArgCysHisProArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359621" }, { "coordinates": [ { "allele": "G", "end": 2858, "referenceAllele": "C", "start": 2857 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000562109.5:c.2829C>G" ], "proteinEffect": { "hgvs": "ENSP00000454998.1:p.Tyr943Ter", "hgvsWellDefined": "ENSP00000454998.1:p.Tyr943_Arg1281delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyMetThrAsnAlaTrpLeuLeuGlyAspAlaProArgThrLeuThrAsnThrArgCysHisProArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS376568" }, { "@id": "http://reg.genome.network/allele/PA145315", "coordinates": [ { "allele": "G", "end": 3139, "referenceAllele": "C", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_000833.4:c.2829C>G" ], "proteinEffect": { "hgvs": "NP_000824.1:p.Tyr943Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006862" }, { "@id": "http://reg.genome.network/allele/PA2825779056", "coordinates": [ { "allele": "G", "end": 3377, "referenceAllele": "C", "start": 3376 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_001134407.2:c.2829C>G" ], "proteinEffect": { "hgvs": "NP_001127879.1:p.Tyr943Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012230" }, { "@id": "http://reg.genome.network/allele/PA915976175", "coordinates": [ { "allele": "G", "end": 3038, "referenceAllele": "C", "start": 3037 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_001134408.2:c.2829C>G" ], "proteinEffect": { "hgvs": "NP_001127880.1:p.Tyr943Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012231" }, { "coordinates": [ { "allele": "G", "end": 2685, "referenceAllele": "C", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522456.1:c.2670C>G" ], "proteinEffect": { "hgvs": "XP_011520758.1:p.Tyr890Ter", "hgvsWellDefined": "XP_011520758.1:p.Tyr890_Val1411delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089607" }, { "coordinates": [ { "allele": "G", "end": 2581, "referenceAllele": "C", "start": 2580 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522457.1:c.2571C>G" ], "proteinEffect": { "hgvs": "XP_011520759.1:p.Tyr857Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089608" }, { "coordinates": [ { "allele": "G", "end": 2639, "referenceAllele": "C", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522458.1:c.2358C>G" ], "proteinEffect": { "hgvs": "XP_011520760.1:p.Tyr786Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089609" }, { "coordinates": [ { "allele": "G", "end": 2783, "referenceAllele": "C", "start": 2782 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522459.1:c.2358C>G" ], "proteinEffect": { "hgvs": "XP_011520761.1:p.Tyr786Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089610" }, { "coordinates": [ { "allele": "G", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522460.1:c.2358C>G" ], "proteinEffect": { "hgvs": "XP_011520762.1:p.Tyr786Ter", "hgvsWellDefined": "XP_011520762.1:p.Tyr786_Val1307delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089611" }, { "coordinates": [ { "allele": "G", "end": 3749, "referenceAllele": "C", "start": 3748 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522461.1:c.2829C>G" ], "proteinEffect": { "hgvs": "XP_011520763.1:p.Tyr943Ter", "hgvsWellDefined": "XP_011520763.1:p.Tyr943_Arg1281delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyMetThrAsnAlaTrpLeuLeuGlyAspAlaProArgThrLeuThrAsnThrArgCysHisProArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089612" }, { "coordinates": [ { "allele": "G", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522458.3:c.2358C>G" ], "proteinEffect": { "hgvs": "XP_011520760.1:p.Tyr786Ter", "hgvsWellDefined": "XP_011520760.1:p.Tyr786_Val1307delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546597" }, { "coordinates": [ { "allele": "G", "end": 3313, "referenceAllele": "C", "start": 3312 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522461.3:c.2829C>G" ], "proteinEffect": { "hgvs": "XP_011520763.1:p.Tyr943Ter", "hgvsWellDefined": "XP_011520763.1:p.Tyr943_Arg1281delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyMetThrAsnAlaTrpLeuLeuGlyAspAlaProArgThrLeuThrAsnThrArgCysHisProArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546598" }, { "coordinates": [ { "allele": "G", "end": 3250, "referenceAllele": "C", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_017023172.1:c.2985C>G" ], "proteinEffect": { "hgvs": "XP_016878661.1:p.Tyr995Ter", "hgvsWellDefined": "XP_016878661.1:p.Tyr995_Val1516delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573976" }, { "coordinates": [ { "allele": "G", "end": 3250, "referenceAllele": "C", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_017023173.1:c.2985C>G" ], "proteinEffect": { "hgvs": "XP_016878662.1:p.Tyr995Ter", "hgvsWellDefined": "XP_016878662.1:p.Tyr995_Arg1333delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyMetThrAsnAlaTrpLeuLeuGlyAspAlaProArgThrLeuThrAsnThrArgCysHisProArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573977" }, { "@id": "http://reg.genome.network/allele/PA2825779056", "coordinates": [ { "allele": "G", "end": 3399, "referenceAllele": "C", "start": 3398 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_001134407.3:c.2829C>G" ], "proteinEffect": { "hgvs": "NP_001127879.1:p.Tyr943Ter", "hgvsWellDefined": "NP_001127879.1:p.Tyr943_Val1464delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663623", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000330684.4:c.2829C>G" }, "RefSeq": { "hgvs": "NM_001134407.3:c.2829C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332549.3:p.Tyr943Ter" }, "RefSeq": { "hgvs": "NP_001127879.1:p.Tyr943Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA145315", "coordinates": [ { "allele": "G", "end": 3293, "referenceAllele": "C", "start": 3292 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_000833.5:c.2829C>G" ], "proteinEffect": { "hgvs": "NP_000824.1:p.Tyr943Ter", "hgvsWellDefined": "NP_000824.1:p.Tyr943_Val1464delinsSerAspAsnArgSerPheGlnGlyLysGluSerIlePheGlyAspAsnMetAsnGluLeuGlnThrPheValAlaAsnArgGlnLysAspAsnLeuAsnAsnTyrValPheGlnGlyGlnHisProLeuThrLeuAsnGluSerAsnProAsnThrValGluValAlaValSerThrGluSerLysAlaAsnSerArgProArgGlnLeuTrpLysLysSerValAspSerIleArgGlnAspSerLeuSerGlnAsnProValSerGlnArgAspGluAlaThrAlaGluAsnArgThrHisSerLeuLysSerProArgTyrLeuProGluGluMetAlaHisSerAspIleSerGluThrSerAsnArgAlaThrCysHisArgGluProAspAsnSerLysAsnHisLysThrLysAspAsnPheLysArgSerValAlaSerLysTyrProLysAspCysSerGluValGluArgThrTyrLeuLysThrLysSerSerSerProArgAspLysIleTyrThrIleAspGlyGluLysGluProGlyPheHisLeuAspProProGlnPheValGluAsnValThrLeuProGluAsnValAspPheProAspProTyrGlnAspProSerGluAsnPheArgLysGlyAspSerThrLeuProMetAsnArgAsnProLeuHisAsnGluGluGlyLeuSerAsnAsnAspGlnTyrLysLeuTyrSerLysHisPheThrLeuLysAspLysGlySerProHisSerGluThrSerGluArgTyrArgGlnAsnSerThrHisCysArgSerCysLeuSerAsnMetProThrTyrSerGlyHisPheThrMetArgSerProPheLysCysAspAlaCysLeuArgMetGlyAsnLeuTyrAspIleAspGluAspGlnMetLeuGlnGluThrGlyAsnProAlaThrGlyGluGlnValTyrGlnGlnAspTrpAlaGlnAsnAsnAlaLeuGlnLeuGlnLysAsnLysLeuArgIleSerArgGlnHisSerTyrAspAsnIleValAspLysProArgGluLeuAspLeuSerArgProSerArgSerIleSerLeuLysAspArgGluArgLeuLeuGluGlyAsnPheTyrGlySerLeuPheSerValProSerSerLysLeuSerGlyLysLysSerSerLeuPheProGlnGlyLeuGluAspSerLysArgSerLysSerLeuLeuProAspHisThrSerAspAsnProPheLeuHisSerHisArgAspAspGlnArgLeuValIleGlyArgCysProSerAspProTyrLysHisSerLeuProSerGlnAlaValAsnAspSerTyrLeuArgSerSerLeuArgSerThrAlaSerTyrCysSerArgAspSerArgGlyHisAsnAspValTyrIleSerGluHisValMetProTyrAlaAlaAsnLysAsnAsnMetTyrSerThrProArgValLeuAsnSerCysSerAsnArgArgValTyrLysLysMetProSerIleGluSerAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674962" } ], "type": "nucleotide" }