{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356142048",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1784343[alleleid]",
        "alleleId": 1784343,
        "preferredName": "NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726816",
        "RCV": [
          "RCV002310500"
        ],
        "variationId": 1726816
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5664967G>A?assembly=hg19",
        "id": "chr4:g.5664967G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5663240G>A?assembly=hg38",
        "id": "chr4:g.5663240G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2475506558",
        "rs": 2475506558
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 5663240,
          "referenceAllele": "G",
          "start": 5663239
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5663240G>A",
        "CM000666.2:g.5663240G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 5664967,
          "referenceAllele": "G",
          "start": 5664966
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5664967G>A",
        "CM000666.1:g.5664967G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 5715868,
          "referenceAllele": "G",
          "start": 5715867
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5715868G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51309,
          "referenceAllele": "C",
          "start": 51308
        }
      ],
      "hgvs": [
        "NG_015821.1:g.51309C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Gln338Ter",
        "hgvsWellDefined": "ENSP00000342144.5:p.Gln338_Asp1308delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.1012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.1012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Gln338Ter"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Gln338Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Gln258Ter",
        "hgvsWellDefined": "ENSP00000311683.2:p.Gln258_Asp1228delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Gln338Ter",
        "hgvsWellDefined": "ENSP00000342144.5:p.Gln338_Asp1308delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:p.Gln258Ter",
        "hgvsWellDefined": "ENSP00000431981.1:p.Gln258_Lys1166delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgSerGlyAsnGlnGluSerPheTrpGlnTyrLeuValGlyThrProGluIleGlyLeuIleGluTrpMetSerGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1113,
          "referenceAllele": "C",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:p.Gln258Ter",
        "hgvsWellDefined": "ENSP00000423876.1:p.Gln258_Lys452delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaValCysCysArgValGlnGlnProSerAlaAspProProTrpProGlyThrGlyAlaLeuGluGluValSerArgPheAlaThrArgArgArgLeuCysGlnSerSerGlnThrAlaGlyCysPheProGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025175",
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Gln258Ter",
        "hgvsWellDefined": "NP_001159608.1:p.Gln258_Asp1228delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580513784",
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Gln338Ter",
        "hgvsWellDefined": "NP_667338.3:p.Gln338_Asp1308delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Gln338Ter",
        "hgvsWellDefined": "XP_011511694.1:p.Gln338_Asp1311delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgValArgGlnSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:p.Gln338Ter",
        "hgvsWellDefined": "XP_011511695.1:p.Gln338_Gly1248delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgValArgGlnSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgCysTyrAlaLysCysGlnThrThrValAsnCysArgGlyLysThrArgValSerGluLeuPheHisArgTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "C",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Gln258Ter",
        "hgvsWellDefined": "XP_011511696.1:p.Gln258_Asp1231delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgValArgGlnSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Gln258Ter",
        "hgvsWellDefined": "XP_016863225.1:p.Gln258_Asp1228delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Gln258Ter",
        "hgvsWellDefined": "XP_016863226.1:p.Gln258_Asp1228delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1077,
          "referenceAllele": "C",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:p.Gln338Ter",
        "hgvsWellDefined": "XP_016863227.1:p.Gln338_Gln1090delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.-661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.-661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.-765C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.-765C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1077,
          "referenceAllele": "C",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.1077C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580513784",
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Gln338Ter",
        "hgvsWellDefined": "NP_667338.3:p.Gln338_Asp1308delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.1012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.1012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Gln338Ter"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Gln338Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025175",
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Gln258Ter",
        "hgvsWellDefined": "NP_001159608.1:p.Gln258_Asp1228delinsTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}