{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA156215", "communityStandardTitle": [ "NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136560[alleleid]", "alleleId": 136560, "preferredName": "NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132811", "RCV": [ "RCV000119280" ], "variationId": 132811 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.110170075C>A?assembly=hg19", "id": "chr1:g.110170075C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.109627453C>A?assembly=hg38", "id": "chr1:g.109627453C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777393", "rs": 587777393 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-109627453-C-A?dataset=gnomad_r4", "id": "1-109627453-C-A", "variant": "1:109627453 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 109627453, "referenceAllele": "C", "start": 109627452 } ], "hgvs": [ "NC_000001.11:g.109627453C>A", "CM000663.2:g.109627453C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 110170075, "referenceAllele": "C", "start": 110170074 } ], "hgvs": [ "NC_000001.10:g.110170075C>A", "CM000663.1:g.110170075C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 109971598, "referenceAllele": "C", "start": 109971597 } ], "hgvs": [ "NC_000001.9:g.109971598C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 12641, "referenceAllele": "C", "start": 12640 } ], "hgvs": [ "NG_034075.1:g.12641C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005732" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000256578.8:c.885C>A" ], "proteinEffect": { "hgvs": "ENSP00000256578.4:p.Tyr295Ter", "hgvsWellDefined": "ENSP00000256578.4:p.Tyr295_Gln825delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741787" }, { "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000358729.9:c.885C>A" ], "proteinEffect": { "hgvs": "ENSP00000351573.5:p.Tyr295Ter", "hgvsWellDefined": "ENSP00000351573.5:p.Tyr295_Gln788delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749109" }, { "coordinates": [ { "allele": "A", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000369840.7:c.885C>A" ], "proteinEffect": { "hgvs": "ENSP00000358855.3:p.Tyr295Ter", "hgvsWellDefined": "ENSP00000358855.3:p.Tyr295_Gln836delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysValArgAlaGlnGlnAlaAlaArgArgAlaGlyGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750484" }, { "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000474459.6:n.1504C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757119" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000476688.3:c.567C>A" ], "proteinEffect": { "hgvs": "ENSP00000437025.2:p.Tyr189Ter", "hgvsWellDefined": "ENSP00000437025.2:p.Tyr189_Gln719delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757197" }, { "coordinates": [ { "allele": "A", "end": 1608, "referenceAllele": "C", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000486282.7:n.1608C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757531" }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000524975.2:n.1219C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758886" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "C", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000525415.2:n.1405C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758906" }, { "coordinates": [ { "allele": "A", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.6:n.948C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758958" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000527846.7:n.740C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759052" }, { "coordinates": [ { "allele": "A", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.7:c.885C>A" ], "proteinEffect": { "hgvs": "ENSP00000436541.2:p.Tyr295Ter", "hgvsWellDefined": "ENSP00000436541.2:p.Tyr295_Gln825delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759088", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.885C>A" }, "RefSeq": { "hgvs": "NM_001368809.2:c.885C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Tyr295Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Tyr295Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531203.6:c.693C>A" ], "proteinEffect": { "hgvs": "ENSP00000431975.2:p.Tyr231Ter", "hgvsWellDefined": "ENSP00000431975.2:p.Tyr231_Gln761delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759222" }, { "coordinates": [ { "allele": "A", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000531734.6:c.804C>A" ], "proteinEffect": { "hgvs": "ENSP00000433739.2:p.Tyr268Ter", "hgvsWellDefined": "ENSP00000433739.2:p.Tyr268_Gln798delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759254" }, { "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "C", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000652975.2:c.*637C>A" ], "proteinEffect": { "hgvs": "ENSP00000499620.2:n.*637C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772405" }, { "coordinates": [ { "allele": "A", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000654851.1:n.727C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772478" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000655992.1:c.693C>A" ], "proteinEffect": { "hgvs": "ENSP00000499740.1:p.Tyr231Ter", "hgvsWellDefined": "ENSP00000499740.1:p.Tyr231_Cys564delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlyAlaSerThrArgLeuCysTer" 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"http://reg.genome.network/refseq/RS772647" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000663749.1:c.*637C>A" ], "proteinEffect": { "hgvs": "ENSP00000499739.1:n.*637C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772828" }, { "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000667949.2:c.285C>A" ], "proteinEffect": { "hgvs": "ENSP00000499465.2:p.Tyr95Ter", "hgvsWellDefined": "ENSP00000499465.2:p.Tyr95_Gln625delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" 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"ENSP00000256578.3:p.Tyr349_Gln879delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250191" }, { "coordinates": [ { "allele": "A", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000342115.8:c.804C>A" ], "proteinEffect": { "hgvs": "ENSP00000345498.4:p.Tyr268Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS261486" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000358729.8:c.822C>A" ], "proteinEffect": { "hgvs": "ENSP00000351573.4:p.Tyr274Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS264558" }, { "coordinates": [ { "allele": "A", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000369840.6:c.958C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS267737" }, { "coordinates": [ { "allele": "A", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000393688.7:c.690C>A" ], "proteinEffect": { "hgvs": "ENSP00000377292.3:p.Tyr230Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS275758" }, { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "C", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000524975.1:n.531C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS351058" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000526301.5:n.1086C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352192" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528454.5:c.693C>A" ], "proteinEffect": { "hgvs": "ENSP00000437164.1:p.Tyr231Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS353994" }, { "coordinates": [ { "allele": "A", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "ENST00000528667.5:c.1047C>A" ], "proteinEffect": { "hgvs": "ENSP00000436541.1:p.Tyr349Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS354174" }, { "@id": "http://reg.genome.network/allele/PA156216", "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "C", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.1:c.1047C>A" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Tyr349Ter", "hgvsWellDefined": "NP_001244289.1:p.Tyr349_Gln879delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019611" }, { "@id": "http://reg.genome.network/allele/PA2826442139", "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.1:c.693C>A" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Tyr231Ter", "hgvsWellDefined": "NP_001244290.1:p.Tyr231_Gln761delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019612" }, { "@id": "http://reg.genome.network/allele/PA2826928925", "coordinates": [ { "allele": "A", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001308170.1:c.822C>A" ], "proteinEffect": { "hgvs": "NP_001295099.1:p.Tyr274Ter", "hgvsWellDefined": "NP_001295099.1:p.Tyr274_Gln804delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026191" }, { "@id": "http://reg.genome.network/allele/PA913197828", "coordinates": [ { "allele": "A", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.7:c.1047C>A" ], "proteinEffect": { "hgvs": "NP_004028.3:p.Tyr349Ter", "hgvsWellDefined": "NP_004028.3:p.Tyr349_Gln879delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029227" }, { "@id": "http://reg.genome.network/allele/PA2830275747", "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.3:c.804C>A" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Tyr268Ter", "hgvsWellDefined": "NP_631895.1:p.Tyr268_Gln798delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040995" }, { "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_203404.1:c.690C>A" ], "proteinEffect": { "hgvs": "NP_981949.1:p.Tyr230Ter", "hgvsWellDefined": "NP_981949.1:p.Tyr230_Gln760delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045190" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "C", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541247.1:c.1260C>A" ], "proteinEffect": { "hgvs": "XP_011539549.1:p.Tyr420Ter", "hgvsWellDefined": "XP_011539549.1:p.Tyr420_Gln950delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108189" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "C", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_011541248.1:c.1260C>A" ], "proteinEffect": { "hgvs": "XP_011539550.1:p.Tyr420Ter", "hgvsWellDefined": "XP_011539550.1:p.Tyr420_Lys594delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108190" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "C", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_946607.1:n.1283C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140191" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446431.1:c.822C>A" ], "proteinEffect": { "hgvs": "XP_024302199.1:p.Tyr274Ter", "hgvsWellDefined": "XP_024302199.1:p.Tyr274_Gln804delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580095" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XM_024446432.1:c.822C>A" ], "proteinEffect": { "hgvs": "XP_024302200.1:p.Tyr274Ter", "hgvsWellDefined": "XP_024302200.1:p.Tyr274_Gln778delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaValCysAlaSerGlyValGlyCysGlyThrGluSerValArgGlyProGlyValThrGlyAspLeuSerLeuProMetSerProArgThrGlyThrLeuSerIleAlaLeuThrSerLeuMetProAsnThrThrLeuLeuGlySerProSerSerGluArgSerSerSerArgArgThrThrGlyTyrLeuGlySerThrLeuLeuThrSerSerSerAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580096" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "XR_002956282.1:n.1458C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602444" }, { "@id": "http://reg.genome.network/allele/PA156216", "coordinates": [ { "allele": "A", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257360.2:c.1047C>A" ], "proteinEffect": { "hgvs": "NP_001244289.1:p.Tyr349Ter", "hgvsWellDefined": "NP_001244289.1:p.Tyr349_Gln879delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664098" }, { "@id": "http://reg.genome.network/allele/PA2828290414", "coordinates": [ { "allele": "A", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001368809.2:c.885C>A" ], "proteinEffect": { "hgvs": "NP_001355738.1:p.Tyr295Ter", "hgvsWellDefined": "NP_001355738.1:p.Tyr295_Gln825delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691440", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000528667.7:c.885C>A" }, "RefSeq": { "hgvs": "NM_001368809.2:c.885C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436541.2:p.Tyr295Ter" }, "RefSeq": { "hgvs": "NP_001355738.1:p.Tyr295Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916003012", "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_004037.9:c.885C>A" ], "proteinEffect": { "hgvs": "NP_004028.4:p.Tyr295Ter", "hgvsWellDefined": "NP_004028.4:p.Tyr295_Gln825delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696030" }, { "@id": "http://reg.genome.network/allele/PA2826442139", "coordinates": [ { "allele": "A", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_001257361.2:c.693C>A" ], "proteinEffect": { "hgvs": "NP_001244290.1:p.Tyr231Ter", "hgvsWellDefined": "NP_001244290.1:p.Tyr231_Gln761delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714882" }, { "@id": "http://reg.genome.network/allele/PA2830275747", "coordinates": [ { "allele": "A", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN000469", "geneNCBI_id": 271, "geneSymbol": "AMPD2", "hgvs": [ "NM_139156.4:c.804C>A" ], "proteinEffect": { "hgvs": "NP_631895.1:p.Tyr268Ter", "hgvsWellDefined": "NP_631895.1:p.Tyr268_Gln798delinsProAspLeuGlnGluPheValAlaAspValAsnValLeuMetAlaLeuIleIleAsnGlyProIleLysSerPheCysTyrArgArgLeuGlnTyrLeuSerSerLysPheGlnMetHisValLeuLeuAsnGluMetLysGluLeuAlaAlaGlnLysLysValProHisArgAspPheTyrAsnIleArgLysValAspThrHisIleHisAlaSerSerCysMetAsnGlnLysHisLeuLeuArgPheIleLysArgAlaMetLysArgHisLeuGluGluIleValHisValGluGlnGlyArgGluGlnThrLeuArgGluValPheGluSerMetAsnLeuThrAlaTyrAspLeuSerValAspThrLeuAspValHisAlaAspArgAsnThrPheHisArgPheAspLysPheAsnAlaLysTyrAsnProIleGlyGluSerValLeuArgGluIlePheIleLysThrAspAsnArgValSerGlyLysTyrPheAlaHisIleIleLysGluValMetSerAspLeuGluGluSerLysTyrGlnAsnAlaGluLeuArgLeuSerIleTyrGlyArgSerArgAspGluTrpAspLysLeuAlaArgTrpAlaValMetHisArgValHisSerProAsnValArgTrpLeuValGlnValProArgLeuPheAspValTyrArgThrLysGlyGlnLeuAlaAsnPheGlnGluMetLeuGluAsnIlePheLeuProLeuPheGluAlaThrValHisProAlaSerHisProGluLeuHisLeuPheLeuGluHisValAspGlyPheAspSerValAspAspGluSerLysProGluAsnHisValPheAsnLeuGluSerProLeuProGluAlaTrpValGluGluAspAsnProProTyrAlaTyrTyrLeuTyrTyrThrPheAlaAsnMetAlaMetLeuAsnHisLeuArgArgGlnArgGlyPheHisThrPheValLeuArgProHisCysGlyGluAlaGlyProIleHisHisLeuValSerAlaPheMetLeuAlaGluAsnIleSerHisGlyLeuLeuLeuArgLysAlaProValLeuGlnTyrLeuTyrTyrLeuAlaGlnIleGlyIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuSerTyrHisArgAsnProLeuProGluTyrLeuSerArgGlyLeuMetValSerLeuSerThrAspAspProLeuGlnPheHisPheThrLysGluProLeuMetGluGluTyrSerIleAlaThrGlnValTrpLysLeuSerSerCysAspMetCysGluLeuAlaArgAsnSerValLeuMetSerGlyPheSerHisLysValLysSerHisTrpLeuGlyProAsnTyrThrLysGluGlyProGluGlyAsnAspIleArgArgThrAsnValProAspIleArgValGlyTyrArgTyrGluThrLeuCysGlnGluLeuAlaLeuIleThrGlnAlaValGlnSerGluMetLeuGluThrIleProGluGluAlaGlyIleThrMetSerProGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729213" } ], "type": "nucleotide" }