{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA992820", "communityStandardTitle": [ "NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=611481[alleleid]", "alleleId": 611481, "preferredName": "NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620339", "RCV": [ "RCV000760709", "RCV001784371" ], "variationId": 620339 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-110169038-G-T", "id": "1-110169038-G-T", "variant": "1:110169038 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.110169038G>T?assembly=hg19", "id": "chr1:g.110169038G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.109626416G>T?assembly=hg38", "id": "chr1:g.109626416G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/753591864", "rs": 753591864 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-110169038-G-T?dataset=gnomad_r2_1", "id": "1-110169038-G-T", "variant": "1:110169038 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-109626416-G-T?dataset=gnomad_r3", "id": "1-109626416-G-T", "variant": "1:109626416 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-109626416-G-T?dataset=gnomad_r4", "id": "1-109626416-G-T", "variant": "1:109626416 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109626416, "referenceAllele": "G", "start": 109626415 } ], "hgvs": [ "NC_000001.11:g.109626416G>T", "CM000663.2:g.109626416G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 110169038, "referenceAllele": "G", "start": 110169037 } ], "hgvs": [ "NC_000001.10:g.110169038G>T", "CM000663.1:g.110169038G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109970561, "referenceAllele": "G", "start": 109970560 } ], "hgvs": [ "NC_000001.9:g.109970561G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 11604, "referenceAllele": "G", "start": 11603 } ], "hgvs": [ "NG_034075.1:g.11604G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005732" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "G", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000256578.8:c.520G>T" ], "proteinEffect": { "hgvs": "ENSP00000256578.4:p.Glu174Ter", "hgvsWellDefined": "ENSP00000256578.4:p.Glu174_Gln825delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" 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"ENSP00000351573.5:p.Glu174_Gln788delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750484" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000474459.6:n.877G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757119" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000476688.3:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000437025.2:p.Glu68Ter", "hgvsWellDefined": "ENSP00000437025.2:p.Glu68_Gln719delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" 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"referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.6:n.583G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758958" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "G", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000527846.7:n.375G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759052" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.7:c.520G>T" ], "proteinEffect": { "hgvs": "ENSP00000436541.2:p.Glu174Ter", "hgvsWellDefined": "ENSP00000436541.2:p.Glu174_Gln825delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759088", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.520G>T" }, "RefSeq": { "hgvs": "NM_001368809.2:c.520G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Glu174Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Glu174Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "G", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531203.6:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000431975.2:p.Glu110Ter", "hgvsWellDefined": "ENSP00000431975.2:p.Glu110_Gln761delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759222" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531734.6:c.439G>T" ], "proteinEffect": { "hgvs": "ENSP00000433739.2:p.Glu147Ter", "hgvsWellDefined": "ENSP00000433739.2:p.Glu147_Gln798delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759254" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000652975.2:c.*272G>T" ], "proteinEffect": { "hgvs": "ENSP00000499620.2:n.*272G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772405" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000654851.1:n.362G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772478" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000655992.1:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000499740.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000499740.1:p.Glu110_Cys564delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlyAlaSerThrArgLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772518" }, { "coordinates": [ { "allele": "T", "end": 520, "referenceAllele": "G", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000659122.2:c.520G>T" ], "proteinEffect": { "hgvs": "ENSP00000499621.2:p.Glu174Ter", "hgvsWellDefined": "ENSP00000499621.2:p.Glu174_Lys469delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772647" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000663749.1:c.*272G>T" ], "proteinEffect": { "hgvs": "ENSP00000499739.1:n.*272G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772828" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000667949.2:c.-81G>T" ], "proteinEffect": { "hgvs": "ENSP00000499465.2:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773003" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "G", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000668421.1:c.*461G>T" ], "proteinEffect": { "hgvs": "ENSP00000499362.1:n.*461G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773019" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000679379.1:c.*272G>T" ], "proteinEffect": { "hgvs": "ENSP00000505528.1:n.*272G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779011" }, { "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "G", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000679593.1:c.520G>T" ], "proteinEffect": { "hgvs": "ENSP00000505999.1:p.Glu174Ter", "hgvsWellDefined": "ENSP00000505999.1:p.Glu174_Cys628delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlyAlaSerThrArgLeuCysTer" 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"http://reg.genome.network/refseq/RS325124" }, { "coordinates": [ { "allele": "T", "end": 129, "referenceAllele": "G", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000525415.1:n.129G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS351448" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.5:n.721G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352192" }, { "coordinates": [ { "allele": "T", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000527846.5:c.583G>T" ], "proteinEffect": { "hgvs": "ENSP00000431904.1:p.Glu195Ter", "hgvsWellDefined": "ENSP00000431904.1:p.Glu195del" }, "referenceSequence": "http://reg.genome.network/refseq/RS353475" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528454.5:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000437164.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000437164.1:p.Glu110_Gln761delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353994" }, { "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "G", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.5:c.682G>T" ], "proteinEffect": { "hgvs": "ENSP00000436541.1:p.Glu228Ter", "hgvsWellDefined": "ENSP00000436541.1:p.Glu228_Gln879delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS354174" }, { "coordinates": [ { "allele": "T", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000534144.1:n.346G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358798" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.1:c.682G>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Glu228Ter", "hgvsWellDefined": "NP_001244289.1:p.Glu228_Gln879delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019611" }, { "@id": "http://reg.genome.network/allele/PA2826442068", "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.1:c.328G>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Glu110Ter", "hgvsWellDefined": "NP_001244290.1:p.Glu110_Gln761delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019612" }, { "@id": "http://reg.genome.network/allele/PA2826928880", "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "G", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001308170.1:c.457G>T" ], "proteinEffect": { "hgvs": "NP_001295099.1:p.Glu153Ter", "hgvsWellDefined": "NP_001295099.1:p.Glu153_Gln804delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026191" }, { "coordinates": [ { "allele": "T", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.7:c.682G>T" ], "proteinEffect": { "hgvs": "NP_004028.3:p.Glu228Ter", "hgvsWellDefined": "NP_004028.3:p.Glu228_Gln879delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029227" }, { "@id": "http://reg.genome.network/allele/PA2830275702", "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.3:c.439G>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Glu147Ter", "hgvsWellDefined": "NP_631895.1:p.Glu147_Gln798delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040995" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_203404.1:c.325G>T" ], "proteinEffect": { "hgvs": "NP_981949.1:p.Glu109Ter", "hgvsWellDefined": "NP_981949.1:p.Glu109_Gln760delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045190" }, { "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541247.1:c.895G>T" ], "proteinEffect": { "hgvs": "XP_011539549.1:p.Glu299Ter", "hgvsWellDefined": "XP_011539549.1:p.Glu299_Gln950delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108189" }, { "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541248.1:c.895G>T" ], "proteinEffect": { "hgvs": "XP_011539550.1:p.Glu299Ter", "hgvsWellDefined": "XP_011539550.1:p.Glu299_Lys594delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108190" }, { "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_946607.1:n.918G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140191" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446431.1:c.457G>T" ], "proteinEffect": { "hgvs": "XP_024302199.1:p.Glu153Ter", "hgvsWellDefined": "XP_024302199.1:p.Glu153_Gln804delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580095" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446432.1:c.457G>T" ], "proteinEffect": { "hgvs": "XP_024302200.1:p.Glu153Ter", "hgvsWellDefined": "XP_024302200.1:p.Glu153_Gln778delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaValCysAlaSerGlyValGlyCysGlyThrGluSerValArgGlyProGlyValThrGlyAspLeuSerLeuProMetSerProArgThrGlyThrLeuSerIleAlaLeuThrSerLeuMetProAsnThrThrLeuLeuGlySerProSerSerGluArgSerSerSerArgArgThrThrGlyTyrLeuGlySerThrLeuLeuThrSerSerSerAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580096" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_002956282.1:n.1093G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602444" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.2:c.682G>T" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Glu228Ter", "hgvsWellDefined": "NP_001244289.1:p.Glu228_Gln879delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664098" }, { "@id": "http://reg.genome.network/allele/PA2828290369", "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001368809.2:c.520G>T" ], "proteinEffect": { "hgvs": "NP_001355738.1:p.Glu174Ter", "hgvsWellDefined": "NP_001355738.1:p.Glu174_Gln825delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691440", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.520G>T" }, "RefSeq": { "hgvs": "NM_001368809.2:c.520G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Glu174Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Glu174Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916003007", "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.9:c.520G>T" ], "proteinEffect": { "hgvs": "NP_004028.4:p.Glu174Ter", "hgvsWellDefined": "NP_004028.4:p.Glu174_Gln825delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696030" }, { "@id": "http://reg.genome.network/allele/PA2826442068", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.2:c.328G>T" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Glu110Ter", "hgvsWellDefined": "NP_001244290.1:p.Glu110_Gln761delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714882" }, { "@id": "http://reg.genome.network/allele/PA2830275702", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.4:c.439G>T" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Glu147Ter", "hgvsWellDefined": "NP_631895.1:p.Glu147_Gln798delinsLysCysGlyValProPheThrAspLeuLeuAspAlaAlaLysSerValValArgAlaLeuPheIleArgGluLysTyrMetAlaLeuSerLeuGlnSerPheCysProThrThrArgArgTyrLeuGlnGlnLeuAlaGluLysProLeuGluThrArgThrTyrGluGlnGlyProAspThrProValSerAlaAspAlaProValHisProProAlaLeuGluGlnHisProTyrGluHisCysGluProSerThrMetProGlyAspLeuGlyLeuGlyLeuArgMetValArgGlyValValHisValTyrThrArgArgGluProAspGluHisCysSerGluValGluLeuProTyrProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729213" } ], "type": "nucleotide" }