{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341554130", "communityStandardTitle": [ "NM_001368809.2(AMPD2):c.247G>T (p.Glu83Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1086974[alleleid]", "alleleId": 1086974, "preferredName": "NM_001368809.2(AMPD2):c.247G>T (p.Glu83Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1098293", "RCV": [ "RCV001420164" ], "variationId": 1098293 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.110168308G>T?assembly=hg19", "id": "chr1:g.110168308G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.109625686G>T?assembly=hg38", "id": "chr1:g.109625686G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2101154713", "rs": 2101154713 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109625686, "referenceAllele": "G", "start": 109625685 } ], "hgvs": [ "NC_000001.11:g.109625686G>T", "CM000663.2:g.109625686G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 110168308, "referenceAllele": "G", "start": 110168307 } ], "hgvs": [ "NC_000001.10:g.110168308G>T", "CM000663.1:g.110168308G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109969831, "referenceAllele": "G", "start": 109969830 } ], "hgvs": [ "NC_000001.9:g.109969831G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 10874, "referenceAllele": "G", "start": 10873 } ], "hgvs": [ "NG_034075.1:g.10874G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005732" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000256578.8:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000256578.4:p.Glu83Ter", "hgvsWellDefined": "ENSP00000256578.4:p.Glu83_Gln825delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741787" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000358729.9:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000351573.5:p.Glu83Ter", "hgvsWellDefined": "ENSP00000351573.5:p.Glu83_Gln788delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749109" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000369840.7:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000358855.3:p.Glu83Ter", "hgvsWellDefined": "ENSP00000358855.3:p.Glu83_Gln836delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysValArgAlaGlnGlnAlaAlaArgArgAlaGlyGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750484" }, { "coordinates": [ { "allele": "T", "end": 604, "referenceAllele": "G", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000474459.6:n.604G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757119" }, { "coordinates": [ { "allele": "T", "end": 35, "endIntronDirection": "-", "endIntronOffset": 473, "referenceAllele": "G", "start": 35, "startIntronDirection": "-", "startIntronOffset": 474 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000476688.3:c.36-474G>T" ], "proteinEffect": { "hgvs": "ENSP00000437025.2:n.36-474G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS757197" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000486282.7:n.208G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757531" }, { "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000524975.2:n.207G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758886" }, { "coordinates": [ { "allele": "T", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000525415.2:n.505G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758906" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "G", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.6:n.310G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758958" }, { "coordinates": [ { "allele": "T", "end": 102, "referenceAllele": "G", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000527846.7:n.102G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759052" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "G", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528270.6:c.*235G>T" ], "proteinEffect": { "hgvs": "ENSP00000434891.2:n.*235G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759071" }, { "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.7:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000436541.2:p.Glu83Ter", "hgvsWellDefined": "ENSP00000436541.2:p.Glu83_Gln825delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759088", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.247G>T" }, "RefSeq": { "hgvs": "NM_001368809.2:c.247G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Glu83Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Glu83Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531203.6:c.55G>T" ], "proteinEffect": { "hgvs": "ENSP00000431975.2:p.Glu19Ter", "hgvsWellDefined": "ENSP00000431975.2:p.Glu19_Gln761delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759222" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "G", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531734.6:c.166G>T" ], "proteinEffect": { "hgvs": "ENSP00000433739.2:p.Glu56Ter", "hgvsWellDefined": "ENSP00000433739.2:p.Glu56_Gln798delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759254" }, { "coordinates": [ { "allele": "T", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000652975.2:c.116G>T" ], "proteinEffect": { "hgvs": "ENSP00000499620.2:p.Ter39Leu", "hgvsWellDefined": "ENSP00000499620.2:p.Gly38_Ter39insLeuGluArgAlaPro" }, "referenceSequence": "http://reg.genome.network/refseq/RS772405" }, { "coordinates": [ { "allele": "T", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000654851.1:n.89G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772478" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000655992.1:c.55G>T" ], "proteinEffect": { "hgvs": "ENSP00000499740.1:p.Glu19Ter", "hgvsWellDefined": "ENSP00000499740.1:p.Glu19_Cys564delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlyAlaSerThrArgLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772518" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000659122.2:c.247G>T" ], "proteinEffect": { "hgvs": "ENSP00000499621.2:p.Glu83Ter", "hgvsWellDefined": 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"ENSP00000505999.1:p.Glu83_Cys628delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlyAlaSerThrArgLeuCysTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS261486" }, { "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000358729.8:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000351573.4:p.Glu62Ter", "hgvsWellDefined": 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"ENSP00000377292.3:p.Glu18_Gln760delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275758" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000459643.2:n.276G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304578" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000474459.5:c.-354G>T" ], "proteinEffect": { "hgvs": "ENSP00000432344.1:n.-354G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS315977" }, { "coordinates": [ { "allele": "T", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000486282.6:n.177G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS325124" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.5:n.448G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352192" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "G", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000527846.5:c.310G>T" ], "proteinEffect": { "hgvs": "ENSP00000431904.1:p.Glu104Ter", "hgvsWellDefined": "ENSP00000431904.1:p.Glu104_Glu195del" }, "referenceSequence": "http://reg.genome.network/refseq/RS353475" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528270.5:c.440G>T" ], "proteinEffect": { "hgvs": "ENSP00000434891.1:n.440G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS353834" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528454.5:c.55G>T" ], "proteinEffect": { "hgvs": "ENSP00000437164.1:p.Glu19Ter", "hgvsWellDefined": "ENSP00000437164.1:p.Glu19_Gln761delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353994" }, { "coordinates": [ { "allele": "T", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.5:c.409G>T" ], "proteinEffect": { "hgvs": "ENSP00000436541.1:p.Glu137Ter", "hgvsWellDefined": "ENSP00000436541.1:p.Glu137_Gln879delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS354174" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531203.5:c.55G>T" ], "proteinEffect": { "hgvs": "ENSP00000431975.1:p.Glu19Ter", "hgvsWellDefined": "ENSP00000431975.1:p.Glu19_Gly87del" }, "referenceSequence": "http://reg.genome.network/refseq/RS356336" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "G", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531734.5:c.166G>T" ], "proteinEffect": { "hgvs": "ENSP00000433739.1:p.Glu56Ter", "hgvsWellDefined": "ENSP00000433739.1:p.Glu56Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356776" }, { "coordinates": [ { "allele": "T", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.1:c.409G>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Glu137Ter", "hgvsWellDefined": "NP_001244289.1:p.Glu137_Gln879delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019611" }, { "@id": "http://reg.genome.network/allele/PA2826442020", "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.1:c.55G>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Glu19Ter", "hgvsWellDefined": "NP_001244290.1:p.Glu19_Gln761delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019612" }, { "@id": "http://reg.genome.network/allele/PA2826928852", "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001308170.1:c.184G>T" ], "proteinEffect": { "hgvs": "NP_001295099.1:p.Glu62Ter", "hgvsWellDefined": "NP_001295099.1:p.Glu62_Gln804delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026191" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "G", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.7:c.409G>T" ], "proteinEffect": { "hgvs": "NP_004028.3:p.Glu137Ter", "hgvsWellDefined": "NP_004028.3:p.Glu137_Gln879delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029227" }, { "@id": "http://reg.genome.network/allele/PA2830275672", "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.3:c.166G>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Glu56Ter", "hgvsWellDefined": "NP_631895.1:p.Glu56_Gln798delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040995" }, { "coordinates": [ { "allele": "T", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_203404.1:c.52G>T" ], "proteinEffect": { "hgvs": "NP_981949.1:p.Glu18Ter", "hgvsWellDefined": "NP_981949.1:p.Glu18_Gln760delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045190" }, { "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541247.1:c.622G>T" ], "proteinEffect": { "hgvs": "XP_011539549.1:p.Glu208Ter", "hgvsWellDefined": "XP_011539549.1:p.Glu208_Gln950delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108189" }, { "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541248.1:c.622G>T" ], "proteinEffect": { "hgvs": "XP_011539550.1:p.Glu208Ter", "hgvsWellDefined": "XP_011539550.1:p.Glu208_Lys594delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108190" }, { "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_946607.1:n.645G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140191" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "G", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446431.1:c.184G>T" ], "proteinEffect": { "hgvs": "XP_024302199.1:p.Glu62Ter", "hgvsWellDefined": "XP_024302199.1:p.Glu62_Gln804delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580095" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "G", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446432.1:c.184G>T" ], "proteinEffect": { "hgvs": "XP_024302200.1:p.Glu62Ter", "hgvsWellDefined": "XP_024302200.1:p.Glu62_Gln778delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaValCysAlaSerGlyValGlyCysGlyThrGluSerValArgGlyProGlyValThrGlyAspLeuSerLeuProMetSerProArgThrGlyThrLeuSerIleAlaLeuThrSerLeuMetProAsnThrThrLeuLeuGlySerProSerSerGluArgSerSerSerArgArgThrThrGlyTyrLeuGlySerThrLeuLeuThrSerSerSerAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580096" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "G", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_002956282.1:n.820G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602444" }, { "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.2:c.409G>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Glu137Ter", "hgvsWellDefined": "NP_001244289.1:p.Glu137_Gln879delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664098" }, { "@id": "http://reg.genome.network/allele/PA2828290338", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001368809.2:c.247G>T" ], "proteinEffect": { "hgvs": "NP_001355738.1:p.Glu83Ter", "hgvsWellDefined": "NP_001355738.1:p.Glu83_Gln825delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691440", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.247G>T" }, "RefSeq": { "hgvs": "NM_001368809.2:c.247G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Glu83Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Glu83Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499265610", "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.9:c.247G>T" ], "proteinEffect": { "hgvs": "NP_004028.4:p.Glu83Ter", "hgvsWellDefined": "NP_004028.4:p.Glu83_Gln825delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696030" }, { "@id": "http://reg.genome.network/allele/PA2826442020", "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "G", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.2:c.55G>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Glu19Ter", "hgvsWellDefined": "NP_001244290.1:p.Glu19_Gln761delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714882" }, { "@id": "http://reg.genome.network/allele/PA2830275672", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.4:c.166G>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Glu56Ter", "hgvsWellDefined": "NP_631895.1:p.Glu56_Gln798delinsSerGluLeuArgSerAlaProTyrGluPheProGluGluSerProIleGluGlnLeuGluGluArgArgGlnArgLeuGluArgGlnIleSerGlnAspValLysLeuGluProAspIleLeuLeuArgAlaLysGlnAspPheLeuLysThrAspSerAspSerAspLeuGlnLeuTyrLysGluGlnGlyGluGlyGlnGlyAspArgSerLeuArgGluArgAspValLeuGluArgGluPheGlnArgValThrIleSerGlyGluGluLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729213" } ], "type": "nucleotide" }