{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022885",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172182[alleleid]",
        "alleleId": 172182,
        "preferredName": "NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162504",
        "RCV": [
          "RCV000149890",
          "RCV000181141",
          "RCV000458517",
          "RCV004019796"
        ],
        "variationId": 162504
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-28667744-A-T",
        "id": "18-28667744-A-T",
        "variant": "18:28667744 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28667744A>T?assembly=hg19",
        "id": "chr18:g.28667744A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31087781A>T?assembly=hg38",
        "id": "chr18:g.31087781A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145476705",
        "rs": 145476705
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28667744-A-T?dataset=gnomad_r2_1",
        "id": "18-28667744-A-T",
        "variant": "18:28667744 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31087781-A-T?dataset=gnomad_r3",
        "id": "18-31087781-A-T",
        "variant": "18:31087781 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31087781-A-T?dataset=gnomad_r4",
        "id": "18-31087781-A-T",
        "variant": "18:31087781 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 31087781,
          "referenceAllele": "A",
          "start": 31087780
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31087781A>T",
        "CM000680.2:g.31087781A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 28667744,
          "referenceAllele": "A",
          "start": 28667743
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28667744A>T",
        "CM000680.1:g.28667744A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 26921742,
          "referenceAllele": "A",
          "start": 26921741
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26921742A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19645,
          "referenceAllele": "T",
          "start": 19644
        }
      ],
      "hgvs": [
        "NG_008208.2:g.19645T>A",
        "LRG_400:g.19645T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.234T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:p.Tyr78Ter",
        "hgvsWellDefined": "ENSP00000507826.1:p.Tyr78_Arg758delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "T",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.8:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Tyr221Ter",
        "hgvsWellDefined": "ENSP00000251081.6:p.Tyr221_Asn847delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "T",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.11:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Tyr221Ter",
        "hgvsWellDefined": "ENSP00000280904.6:p.Tyr221_Arg901delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.663T>A"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.663T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Tyr221Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Tyr221Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "T",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000648081.1:c.234T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497441.1:p.Tyr78Ter",
        "hgvsWellDefined": "ENSP00000497441.1:p.Tyr78_Arg758delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "T",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.6:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Tyr221Ter",
        "hgvsWellDefined": "ENSP00000251081.6:p.Tyr221_Asn847delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "referenceAllele": "T",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.10:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Tyr221Ter",
        "hgvsWellDefined": "ENSP00000280904.6:p.Tyr221_Arg901delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233391",
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "T",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Tyr221Ter",
        "hgvsWellDefined": "NP_004940.1:p.Tyr221_Asn847delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233392",
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "T",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Tyr221Ter",
        "hgvsWellDefined": "NP_077740.1:p.Tyr221_Arg901delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "referenceAllele": "T",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.3:c.234T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Tyr78Ter",
        "hgvsWellDefined": "XP_005258263.1:p.Tyr78_Arg758delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "T",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.234T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Tyr78Ter",
        "hgvsWellDefined": "XP_005258263.1:p.Tyr78_Arg758delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233391",
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "T",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Tyr221Ter",
        "hgvsWellDefined": "NP_004940.1:p.Tyr221_Asn847delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233392",
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "T",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.663T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Tyr221Ter",
        "hgvsWellDefined": "NP_077740.1:p.Tyr221_Arg901delinsThrProGluLeuProLeuProLeuIleIleLysIleGluAspGluAsnAspAsnTyrProIlePheThrGluGluThrTyrThrPheThrIlePheGluAsnCysArgValGlyThrThrValGlyGlnValCysAlaThrAspLysAspGluProAspThrMetHisThrArgLeuLysTyrSerIleIleGlyGlnValProProSerProThrLeuPheSerMetHisProThrThrGlyValIleThrThrThrSerSerGlnLeuAspArgGluLeuIleAspLysTyrGlnLeuLysIleLysValGlnAspMetAspGlyGlnTyrPheGlyLeuGlnThrThrSerThrCysIleIleAsnIleAspAspValAsnAspHisLeuProThrPheThrArgThrSerTyrValThrSerValGluGluAsnThrValAspValGluIleLeuArgValThrValGluAspLysAspLeuValAsnThrAlaAsnTrpArgAlaAsnTyrThrIleLeuLysGlyAsnGluAsnGlyAsnPheLysIleValThrAspAlaLysThrAsnGluGlyValLeuCysValValLysProLeuAsnTyrGluGluLysGlnGlnMetIleLeuGlnIleGlyValValAsnGluAlaProPheSerArgGluAlaSerProArgSerAlaMetSerThrAlaThrValThrValAsnValGluAspGlnAspGluGlyProGluCysAsnProProIleGlnThrValArgMetLysGluAsnAlaGluValGlyThrThrSerAsnGlyTyrLysAlaTyrAspProGluThrArgSerSerSerGlyIleArgTyrLysLysLeuThrAspProThrGlyTrpValThrIleAspGluAsnThrGlySerIleLysValPheArgSerLeuAspArgGluAlaGluThrIleLysAsnGlyIleTyrAsnIleThrValLeuAlaSerAspGlnGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.663T>A"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.663T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Tyr221Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Tyr221Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}