{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA28695246", "communityStandardTitle": [ "NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701389[alleleid]", "alleleId": 1701389, "preferredName": "NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705300", "RCV": [ "RCV002283614", "RCV003774934" ], "variationId": 1705300 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.110170502C>T?assembly=hg19", "id": "chr1:g.110170502C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.109627880C>T?assembly=hg38", "id": "chr1:g.109627880C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/150197784", "rs": 150197784 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-110170502-C-T?dataset=gnomad_r2_1", "id": "1-110170502-C-T", "variant": "1:110170502 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-109627880-C-T?dataset=gnomad_r3", "id": "1-109627880-C-T", "variant": "1:109627880 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-109627880-C-T?dataset=gnomad_r4", "id": "1-109627880-C-T", "variant": "1:109627880 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109627880, "referenceAllele": "C", "start": 109627879 } ], "hgvs": [ "NC_000001.11:g.109627880C>T", "CM000663.2:g.109627880C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 110170502, "referenceAllele": "C", "start": 110170501 } ], "hgvs": [ "NC_000001.10:g.110170502C>T", "CM000663.1:g.110170502C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109972025, "referenceAllele": "C", "start": 109972024 } ], "hgvs": [ "NC_000001.9:g.109972025C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 13068, "referenceAllele": "C", "start": 13067 } ], "hgvs": [ "NG_034075.1:g.13068C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005732" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000256578.8:c.1057C>T" ], "proteinEffect": { "hgvs": "ENSP00000256578.4:p.Arg353Ter", "hgvsWellDefined": "ENSP00000256578.4:p.Arg353_Gln825delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741787" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "C", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000358729.9:c.1057C>T" ], "proteinEffect": { "hgvs": "ENSP00000351573.5:p.Arg353Ter", "hgvsWellDefined": "ENSP00000351573.5:p.Arg353_Gln788delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749109" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000369840.7:c.1057C>T" ], "proteinEffect": { "hgvs": "ENSP00000358855.3:p.Arg353Ter", "hgvsWellDefined": "ENSP00000358855.3:p.Arg353_Gln836delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysValArgAlaGlnGlnAlaAlaArgArgAlaGlyGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750484" }, { "coordinates": [ { "allele": "T", "end": 1676, "referenceAllele": "C", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000474459.6:n.1676C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757119" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000476688.3:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000437025.2:p.Arg247Ter", "hgvsWellDefined": "ENSP00000437025.2:p.Arg247_Gln719delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757197" }, { "coordinates": [ { "allele": "T", "end": 1780, "referenceAllele": "C", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000486282.7:n.1780C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757531" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000524975.2:n.1391C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758886" }, { "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "C", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000525415.2:n.1573C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758906" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.6:n.1120C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758958" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000527846.7:n.912C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759052" }, { "coordinates": [ { "allele": "T", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.7:c.1057C>T" ], "proteinEffect": { "hgvs": "ENSP00000436541.2:p.Arg353Ter", "hgvsWellDefined": "ENSP00000436541.2:p.Arg353_Gln825delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759088", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.1057C>T" }, "RefSeq": { "hgvs": "NM_001368809.2:c.1057C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Arg353Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Arg353Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531203.6:c.865C>T" ], "proteinEffect": { "hgvs": "ENSP00000431975.2:p.Arg289Ter", "hgvsWellDefined": "ENSP00000431975.2:p.Arg289_Gln761delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" 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"ENSP00000345498.4:p.Arg326_Gln798delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261486" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000358729.8:c.994C>T" ], "proteinEffect": { "hgvs": "ENSP00000351573.4:p.Arg332Ter", "hgvsWellDefined": "ENSP00000351573.4:p.Arg332_Gln804delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264558" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000369840.6:c.1130C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS267737" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000393688.7:c.862C>T" ], "proteinEffect": { "hgvs": "ENSP00000377292.3:p.Arg288Ter", "hgvsWellDefined": "ENSP00000377292.3:p.Arg288_Gln760delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275758" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.5:n.1258C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352192" }, { "coordinates": [ { "allele": "T", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528454.5:c.865C>T" ], "proteinEffect": { "hgvs": "ENSP00000437164.1:p.Arg289Ter", "hgvsWellDefined": "ENSP00000437164.1:p.Arg289_Gln761delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353994" }, { "coordinates": [ { "allele": "T", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.5:c.1219C>T" ], "proteinEffect": { "hgvs": "ENSP00000436541.1:p.Arg407Ter", "hgvsWellDefined": "ENSP00000436541.1:p.Arg407_Gln879delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS354174" }, { "coordinates": [ { "allele": "T", "end": 107, "referenceAllele": "C", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000529299.2:n.107C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS354702" }, { "@id": "http://reg.genome.network/allele/PA2580181411", "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.1:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Arg407Ter", "hgvsWellDefined": "NP_001244289.1:p.Arg407_Gln879delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019611" }, { "@id": "http://reg.genome.network/allele/PA2826442159", "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.1:c.865C>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Arg289Ter", "hgvsWellDefined": "NP_001244290.1:p.Arg289_Gln761delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019612" }, { "@id": "http://reg.genome.network/allele/PA2826928941", "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "C", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001308170.1:c.994C>T" ], "proteinEffect": { "hgvs": "NP_001295099.1:p.Arg332Ter", "hgvsWellDefined": "NP_001295099.1:p.Arg332_Gln804delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026191" }, { "coordinates": [ { "allele": "T", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.7:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_004028.3:p.Arg407Ter", "hgvsWellDefined": "NP_004028.3:p.Arg407_Gln879delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029227" }, { "@id": "http://reg.genome.network/allele/PA2830275763", "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.3:c.976C>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Arg326Ter", "hgvsWellDefined": "NP_631895.1:p.Arg326_Gln798delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040995" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_203404.1:c.862C>T" ], "proteinEffect": { "hgvs": "NP_981949.1:p.Arg288Ter", "hgvsWellDefined": "NP_981949.1:p.Arg288_Gln760delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045190" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541247.1:c.1432C>T" ], "proteinEffect": { "hgvs": "XP_011539549.1:p.Arg478Ter", "hgvsWellDefined": "XP_011539549.1:p.Arg478_Gln950delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108189" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541248.1:c.1432C>T" ], "proteinEffect": { "hgvs": "XP_011539550.1:p.Arg478Ter", "hgvsWellDefined": "XP_011539550.1:p.Arg478_Lys594delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108190" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_946607.1:n.1455C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140191" }, { "coordinates": [ { "allele": "T", "end": 1630, "referenceAllele": "C", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446431.1:c.994C>T" ], "proteinEffect": { "hgvs": "XP_024302199.1:p.Arg332Ter", "hgvsWellDefined": "XP_024302199.1:p.Arg332_Gln804delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580095" }, { "coordinates": [ { "allele": "T", "end": 1630, "referenceAllele": "C", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446432.1:c.994C>T" ], "proteinEffect": { "hgvs": "XP_024302200.1:p.Arg332Ter", "hgvsWellDefined": "XP_024302200.1:p.Arg332_Gln778delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaValCysAlaSerGlyValGlyCysGlyThrGluSerValArgGlyProGlyValThrGlyAspLeuSerLeuProMetSerProArgThrGlyThrLeuSerIleAlaLeuThrSerLeuMetProAsnThrThrLeuLeuGlySerProSerSerGluArgSerSerSerArgArgThrThrGlyTyrLeuGlySerThrLeuLeuThrSerSerSerAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580096" }, { "coordinates": [ { "allele": "T", "end": 1630, "referenceAllele": "C", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_002956282.1:n.1630C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602444" }, { "@id": "http://reg.genome.network/allele/PA2580181411", "coordinates": [ { "allele": "T", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.2:c.1219C>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Arg407Ter", "hgvsWellDefined": "NP_001244289.1:p.Arg407_Gln879delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664098" }, { "@id": "http://reg.genome.network/allele/PA2828290430", "coordinates": [ { "allele": "T", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001368809.2:c.1057C>T" ], "proteinEffect": { "hgvs": "NP_001355738.1:p.Arg353Ter", "hgvsWellDefined": "NP_001355738.1:p.Arg353_Gln825delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691440", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.1057C>T" }, "RefSeq": { "hgvs": "NM_001368809.2:c.1057C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Arg353Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Arg353Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829513557", "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.9:c.1057C>T" ], "proteinEffect": { "hgvs": "NP_004028.4:p.Arg353Ter", "hgvsWellDefined": "NP_004028.4:p.Arg353_Gln825delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696030" }, { "@id": "http://reg.genome.network/allele/PA2826442159", "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.2:c.865C>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Arg289Ter", "hgvsWellDefined": "NP_001244290.1:p.Arg289_Gln761delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714882" }, { "@id": "http://reg.genome.network/allele/PA2830275763", "coordinates": [ { "allele": "T", "end": 1408, "referenceAllele": "C", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.4:c.976C>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Arg326Ter", "hgvsWellDefined": "NP_631895.1:p.Arg326_Gln798delinsAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729213" } ], "type": "nucleotide" }