{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346472200",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.2442G>A (p.Trp814Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1992510[alleleid]",
        "alleleId": 1992510,
        "preferredName": "NM_004304.5(ALK):c.2442G>A (p.Trp814Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1933629",
        "RCV": [
          "RCV002649719"
        ],
        "variationId": 1933629
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29456476C>T?assembly=hg19",
        "id": "chr2:g.29456476C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29233610C>T?assembly=hg38",
        "id": "chr2:g.29233610C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148184506",
        "rs": 2148184506
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29233610,
          "referenceAllele": "C",
          "start": 29233609
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29233610C>T",
        "CM000664.2:g.29233610C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29456476,
          "referenceAllele": "C",
          "start": 29456475
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29456476C>T",
        "CM000664.1:g.29456476C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29309980,
          "referenceAllele": "C",
          "start": 29309979
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29309980C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692957,
          "referenceAllele": "G",
          "start": 692956
        }
      ],
      "hgvs": [
        "NG_009445.1:g.692957G>A",
        "LRG_488:g.692957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3369,
          "referenceAllele": "G",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.2442G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Trp814Ter",
        "hgvsWellDefined": "ENSP00000373700.3:p.Trp814_Pro1620delinsAlaGlyGlyGlyGlyGlyGlyGlyGlyAlaThrTyrValPheLysMetLysAspGlyValProValProLeuIleIleAlaAlaGlyGlyGlyGlyArgAlaTyrGlyAlaLysThrAspThrPheHisProGluArgLeuGluAsnAsnSerSerValLeuGlyLeuAsnGlyAsnSerGlyAlaAlaGlyGlyGlyGlyGlyTrpAsnAspAsnThrSerLeuLeuTrpAlaGlyLysSerLeuGlnGluGlyAlaThrGlyGlyHisSerCysProGlnAlaMetLysLysTrpGlyTrpGluThrArgGlyGlyPheGlyGlyGlyGlyGlyGlyCysSerSerGlyGlyGlyGlyGlyGlyTyrIleGlyGlyAsnAlaAlaSerAsnAsnAspProGluMetAspGlyGluAspGlyValSerPheIleSerProLeuGlyIleLeuTyrThrProAlaLeuLysValMetGluGlyHisGlyGluValAsnIleLysHisTyrLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.2442G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.2442G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Trp814Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Trp814Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3349,
          "referenceAllele": "G",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.2442G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Trp814Ter",
        "hgvsWellDefined": "ENSP00000373700.3:p.Trp814_Pro1620delinsAlaGlyGlyGlyGlyGlyGlyGlyGlyAlaThrTyrValPheLysMetLysAspGlyValProValProLeuIleIleAlaAlaGlyGlyGlyGlyArgAlaTyrGlyAlaLysThrAspThrPheHisProGluArgLeuGluAsnAsnSerSerValLeuGlyLeuAsnGlyAsnSerGlyAlaAlaGlyGlyGlyGlyGlyTrpAsnAspAsnThrSerLeuLeuTrpAlaGlyLysSerLeuGlnGluGlyAlaThrGlyGlyHisSerCysProGlnAlaMetLysLysTrpGlyTrpGluThrArgGlyGlyPheGlyGlyGlyGlyGlyGlyCysSerSerGlyGlyGlyGlyGlyGlyTyrIleGlyGlyAsnAlaAlaSerAsnAsnAspProGluMetAspGlyGluAspGlyValSerPheIleSerProLeuGlyIleLeuTyrThrProAlaLeuLysValMetGluGlyHisGlyGluValAsnIleLysHisTyrLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1778,
          "referenceAllele": "G",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Trp437Ter",
        "hgvsWellDefined": "ENSP00000482733.1:p.Trp437_Pro1243delinsAlaGlyGlyGlyGlyGlyGlyGlyGlyAlaThrTyrValPheLysMetLysAspGlyValProValProLeuIleIleAlaAlaGlyGlyGlyGlyArgAlaTyrGlyAlaLysThrAspThrPheHisProGluArgLeuGluAsnAsnSerSerValLeuGlyLeuAsnGlyAsnSerGlyAlaAlaGlyGlyGlyGlyGlyTrpAsnAspAsnThrSerLeuLeuTrpAlaGlyLysSerLeuGlnGluGlyAlaThrGlyGlyHisSerCysProGlnAlaMetLysLysTrpGlyTrpGluThrArgGlyGlyPheGlyGlyGlyGlyGlyGlyCysSerSerGlyGlyGlyGlyGlyGlyTyrIleGlyGlyAsnAlaAlaSerAsnAsnAspProGluMetAspGlyGluAspGlyValSerPheIleSerProLeuGlyIleLeuTyrThrProAlaLeuLysValMetGluGlyHisGlyGluValAsnIleLysHisTyrLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580300393",
      "coordinates": [
        {
          "allele": "A",
          "end": 3394,
          "referenceAllele": "G",
          "start": 3393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.2442G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Trp814Ter",
        "hgvsWellDefined": "NP_004295.2:p.Trp814_Pro1620delinsAlaGlyGlyGlyGlyGlyGlyGlyGlyAlaThrTyrValPheLysMetLysAspGlyValProValProLeuIleIleAlaAlaGlyGlyGlyGlyArgAlaTyrGlyAlaLysThrAspThrPheHisProGluArgLeuGluAsnAsnSerSerValLeuGlyLeuAsnGlyAsnSerGlyAlaAlaGlyGlyGlyGlyGlyTrpAsnAspAsnThrSerLeuLeuTrpAlaGlyLysSerLeuGlnGluGlyAlaThrGlyGlyHisSerCysProGlnAlaMetLysLysTrpGlyTrpGluThrArgGlyGlyPheGlyGlyGlyGlyGlyGlyCysSerSerGlyGlyGlyGlyGlyGlyTyrIleGlyGlyAsnAlaAlaSerAsnAsnAspProGluMetAspGlyGluAspGlyValSerPheIleSerProLeuGlyIleLeuTyrThrProAlaLeuLysValMetGluGlyHisGlyGluValAsnIleLysHisTyrLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3372,
          "referenceAllele": "G",
          "start": 3371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.3372G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580300393",
      "coordinates": [
        {
          "allele": "A",
          "end": 3369,
          "referenceAllele": "G",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.2442G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Trp814Ter",
        "hgvsWellDefined": "NP_004295.2:p.Trp814_Pro1620delinsAlaGlyGlyGlyGlyGlyGlyGlyGlyAlaThrTyrValPheLysMetLysAspGlyValProValProLeuIleIleAlaAlaGlyGlyGlyGlyArgAlaTyrGlyAlaLysThrAspThrPheHisProGluArgLeuGluAsnAsnSerSerValLeuGlyLeuAsnGlyAsnSerGlyAlaAlaGlyGlyGlyGlyGlyTrpAsnAspAsnThrSerLeuLeuTrpAlaGlyLysSerLeuGlnGluGlyAlaThrGlyGlyHisSerCysProGlnAlaMetLysLysTrpGlyTrpGluThrArgGlyGlyPheGlyGlyGlyGlyGlyGlyCysSerSerGlyGlyGlyGlyGlyGlyTyrIleGlyGlyAsnAlaAlaSerAsnAsnAspProGluMetAspGlyGluAspGlyValSerPheIleSerProLeuGlyIleLeuTyrThrProAlaLeuLysValMetGluGlyHisGlyGluValAsnIleLysHisTyrLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.2442G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.2442G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Trp814Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Trp814Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}