{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341554493", "communityStandardTitle": [ "NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2058928[alleleid]", "alleleId": 2058928, "preferredName": "NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2004862", "RCV": [ "RCV002820600" ], "variationId": 2004862 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.110168380C>T?assembly=hg19", "id": "chr1:g.110168380C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.109625758C>T?assembly=hg38", "id": "chr1:g.109625758C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2524398223", "rs": 2524398223 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109625758, 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"ENSP00000433739.2:p.Gln80_Gln798delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759254" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000652975.2:c.*71C>T" ], "proteinEffect": { "hgvs": "ENSP00000499620.2:n.*71C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772405" }, { "coordinates": [ { "allele": "T", "end": 161, "referenceAllele": "C", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000654851.1:n.161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772478" }, { "coordinates": [ { "allele": "T", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000655992.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000499740.1:p.Gln43Ter", "hgvsWellDefined": "ENSP00000499740.1:p.Gln43_Cys564delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlyAlaSerThrArgLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772518" }, { "coordinates": [ { "allele": "T", "end": 319, "referenceAllele": "C", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000659122.2:c.319C>T" ], "proteinEffect": { "hgvs": "ENSP00000499621.2:p.Gln107Ter", "hgvsWellDefined": "ENSP00000499621.2:p.Gln107_Lys469delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772647" }, { "coordinates": [ { "allele": "T", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000663749.1:c.*71C>T" ], "proteinEffect": { "hgvs": "ENSP00000499739.1:n.*71C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772828" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000667949.2:c.-282C>T" ], "proteinEffect": { "hgvs": "ENSP00000499465.2:n.-282C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773003" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ 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"ENSP00000505999.1:p.Gln107_Cys628delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlyAlaSerThrArgLeuCysTer" 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"http://reg.genome.network/refseq/RS325124" }, { "coordinates": [ { "allele": "T", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.5:n.520C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352192" }, { "coordinates": [ { "allele": "T", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000527846.5:c.382C>T" ], "proteinEffect": { "hgvs": "ENSP00000431904.1:p.Gln128Ter", "hgvsWellDefined": "ENSP00000431904.1:p.Gln128_Glu195del" }, "referenceSequence": "http://reg.genome.network/refseq/RS353475" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528270.5:c.512C>T" ], "proteinEffect": { 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"ENSP00000437164.1:p.Gln43_Gln761delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353994" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "C", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.5:c.481C>T" ], "proteinEffect": { "hgvs": "ENSP00000436541.1:p.Gln161Ter", "hgvsWellDefined": "ENSP00000436541.1:p.Gln161_Gln879delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS354174" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531203.5:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000431975.1:p.Gln43Ter", "hgvsWellDefined": "ENSP00000431975.1:p.Gln43_Gly87del" }, "referenceSequence": "http://reg.genome.network/refseq/RS356336" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531734.5:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000433739.1:p.Gln80Ter", "hgvsWellDefined": "ENSP00000433739.1:p.Gln80Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356776" }, { "@id": "http://reg.genome.network/allele/PA2826441878", "coordinates": [ { "allele": "T", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.1:c.481C>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Gln161Ter", "hgvsWellDefined": "NP_001244289.1:p.Gln161_Gln879delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019611" }, { "@id": "http://reg.genome.network/allele/PA2826442040", "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.1:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Gln43Ter", "hgvsWellDefined": "NP_001244290.1:p.Gln43_Gln761delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019612" }, { "@id": "http://reg.genome.network/allele/PA2580195817", "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001308170.1:c.256C>T" ], "proteinEffect": { "hgvs": "NP_001295099.1:p.Gln86Ter", "hgvsWellDefined": "NP_001295099.1:p.Gln86_Gln804delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026191" }, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "C", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.7:c.481C>T" ], "proteinEffect": { "hgvs": "NP_004028.3:p.Gln161Ter", "hgvsWellDefined": "NP_004028.3:p.Gln161_Gln879delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029227" }, { "@id": "http://reg.genome.network/allele/PA2830275686", "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.3:c.238C>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Gln80Ter", "hgvsWellDefined": "NP_631895.1:p.Gln80_Gln798delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040995" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_203404.1:c.124C>T" ], "proteinEffect": { "hgvs": "NP_981949.1:p.Gln42Ter", "hgvsWellDefined": "NP_981949.1:p.Gln42_Gln760delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045190" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541247.1:c.694C>T" ], "proteinEffect": { "hgvs": "XP_011539549.1:p.Gln232Ter", "hgvsWellDefined": "XP_011539549.1:p.Gln232_Gln950delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108189" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541248.1:c.694C>T" ], "proteinEffect": { "hgvs": "XP_011539550.1:p.Gln232Ter", "hgvsWellDefined": "XP_011539550.1:p.Gln232_Lys594delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108190" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_946607.1:n.717C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140191" }, { "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446431.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_024302199.1:p.Gln86Ter", "hgvsWellDefined": "XP_024302199.1:p.Gln86_Gln804delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580095" }, { "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446432.1:c.256C>T" ], "proteinEffect": { "hgvs": "XP_024302200.1:p.Gln86Ter", "hgvsWellDefined": "XP_024302200.1:p.Gln86_Gln778delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaValCysAlaSerGlyValGlyCysGlyThrGluSerValArgGlyProGlyValThrGlyAspLeuSerLeuProMetSerProArgThrGlyThrLeuSerIleAlaLeuThrSerLeuMetProAsnThrThrLeuLeuGlySerProSerSerGluArgSerSerSerArgArgThrThrGlyTyrLeuGlySerThrLeuLeuThrSerSerSerAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580096" }, { "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_002956282.1:n.892C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602444" }, { "@id": "http://reg.genome.network/allele/PA2826441878", "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.2:c.481C>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Gln161Ter", "hgvsWellDefined": "NP_001244289.1:p.Gln161_Gln879delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664098" }, { "@id": "http://reg.genome.network/allele/PA2828290352", "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001368809.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001355738.1:p.Gln107Ter", "hgvsWellDefined": "NP_001355738.1:p.Gln107_Gln825delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691440", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.319C>T" }, "RefSeq": { "hgvs": "NM_001368809.2:c.319C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Gln107Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Gln107Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829513500", "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.9:c.319C>T" ], "proteinEffect": { "hgvs": "NP_004028.4:p.Gln107Ter", "hgvsWellDefined": "NP_004028.4:p.Gln107_Gln825delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696030" }, { "@id": "http://reg.genome.network/allele/PA2826442040", "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.2:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Gln43Ter", "hgvsWellDefined": "NP_001244290.1:p.Gln43_Gln761delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714882" }, { "@id": "http://reg.genome.network/allele/PA2830275686", "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "C", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.4:c.238C>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Gln80Ter", "hgvsWellDefined": "NP_631895.1:p.Gln80_Gln798delinsArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729213" } ], "type": "nucleotide" }