{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356146711",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.802C>T (p.Gln268Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1405907[alleleid]",
        "alleleId": 1405907,
        "preferredName": "NM_147127.5(EVC2):c.802C>T (p.Gln268Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1431836",
        "RCV": [
          "RCV001959706"
        ],
        "variationId": 1431836
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5687111G>A?assembly=hg19",
        "id": "chr4:g.5687111G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5685384G>A?assembly=hg38",
        "id": "chr4:g.5685384G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151728030",
        "rs": 2151728030
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 5685384,
          "referenceAllele": "G",
          "start": 5685383
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5685384G>A",
        "CM000666.2:g.5685384G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 5687111,
          "referenceAllele": "G",
          "start": 5687110
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5687111G>A",
        "CM000666.1:g.5687111G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 5738012,
          "referenceAllele": "G",
          "start": 5738011
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5738012G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29165,
          "referenceAllele": "C",
          "start": 29164
        }
      ],
      "hgvs": [
        "NG_015821.1:g.29165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Gln268Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.802C>T"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.802C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Gln268Ter"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Gln268Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Gln188Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Gln268Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:p.Gln188Ter",
        "hgvsWellDefined": "ENSP00000431981.1:p.Gln188_Lys1166delinsSerSerSerArgAsnArgThrGlnLeuLysValLeuPheSerIleThrAlaGluGluAsnValThrValLeuProHisHisGlyLeuHisAlaAlaGlyPhePheIleAlaPheLeuLeuSerLeuValLeuThrTrpAlaAlaLeuPheLeuMetValArgTyrGlnCysLeuLysGlyAsnMetLeuThrArgHisArgValTrpGlnTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgSerGlyAsnGlnGluSerPheTrpGlnTyrLeuValGlyThrProGluIleGlyLeuIleGluTrpMetSerGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:p.Gln188Ter",
        "hgvsWellDefined": "ENSP00000423876.1:p.Gln188_Lys452delinsSerSerSerArgAsnArgThrGlnLeuLysValLeuPheSerIleThrAlaGluGluAsnValThrValLeuProHisHisGlyLeuHisAlaAlaGlyPhePheIleAlaPheLeuLeuSerLeuValLeuThrTrpAlaAlaLeuPheLeuMetValArgTyrGlnCysLeuLysGlyAsnMetLeuThrArgHisArgValTrpGlnTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaValCysCysArgValGlnGlnProSerAlaAspProProTrpProGlyThrGlyAlaLeuGluGluValSerArgPheAlaThrArgArgArgLeuCysGlnSerSerGlnThrAlaGlyCysPheProGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Gln188Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Gln268Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Gln268Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:p.Gln268Ter",
        "hgvsWellDefined": "XP_011511695.1:p.Gln268_Gly1248delinsSerSerSerArgAsnArgThrGlnLeuLysValLeuPheSerIleThrAlaGluGluAsnValThrValLeuProHisHisGlyLeuHisAlaAlaGlyPhePheIleAlaPheLeuLeuSerLeuValLeuThrTrpAlaAlaLeuPheLeuMetValArgTyrGlnCysLeuLysGlyAsnMetLeuThrArgHisArgValTrpGlnTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgValArgGlnSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgCysTyrAlaLysCysGlnThrThrValAsnCysArgGlyLysThrArgValSerGluLeuPheHisArgTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Gln188Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Gln188Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Gln188Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:p.Gln268Ter",
        "hgvsWellDefined": "XP_016863227.1:p.Gln268_Gln1090delinsSerSerSerArgAsnArgThrGlnLeuLysValLeuPheSerIleThrAlaGluGluAsnValThrValLeuProHisHisGlyLeuHisAlaAlaGlyPhePheIleAlaPheLeuLeuSerLeuValLeuThrTrpAlaAlaLeuPheLeuMetValArgTyrGlnCysLeuLysGlyAsnMetLeuThrArgHisArgValTrpGlnTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.-871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.-871C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.-975C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.-975C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.867C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Gln268Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.802C>T"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.802C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Gln268Ter"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Gln268Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Gln188Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}