{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022354",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31850[alleleid]",
        "alleleId": 31850,
        "preferredName": "NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16811",
        "RCV": [
          "RCV000018304",
          "RCV000181248",
          "RCV002496397",
          "RCV003996106"
        ],
        "variationId": 16811
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.29104755G>A?assembly=hg19",
        "id": "chr18:g.29104755G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31524792G>A?assembly=hg38",
        "id": "chr18:g.31524792G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913007",
        "rs": 121913007
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31524792-G-A?dataset=gnomad_r4",
        "id": "18-31524792-G-A",
        "variant": "18:31524792 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 31524792,
          "referenceAllele": "G",
          "start": 31524791
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31524792G>A",
        "CM000680.2:g.31524792G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 29104755,
          "referenceAllele": "G",
          "start": 29104754
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29104755G>A",
        "CM000680.1:g.29104755G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 27358753,
          "referenceAllele": "G",
          "start": 27358752
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27358753G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31551,
          "referenceAllele": "G",
          "start": 31550
        }
      ],
      "hgvs": [
        "NG_007072.3:g.31551G>A",
        "LRG_397:g.31551G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000682087.2:n.749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.2:n.749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000682087.1:c.749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.1:c.749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Trp306Ter",
        "hgvsWellDefined": "ENSP00000261590.8:p.Trp306_Ser1118delinsLeuAlaAsnPheThrPheAlaSerGlyAsnGluGlyGlyTyrPheHisIleGluThrAspAlaGlnThrAsnGluGlyIleValThrLeuIleLysGluValAspTyrGluGluMetLysAsnLeuAspPheSerValIleValAlaAsnLysAlaAlaPheHisLysSerIleArgSerLysTyrLysProThrProIleProIleLysValLysValLysAsnValLysGluGlyIleHisPheLysSerSerValIleSerIleTyrValSerGluSerMetAspArgSerSerLysGlyGlnIleIleGlyAsnPheGlnAlaPheAspGluAspThrGlyLeuProAlaHisAlaArgTyrValLysLeuGluAspArgAspAsnTrpIleSerValAspSerValThrSerGluIleLysLeuAlaLysLeuProAspPheGluSerArgTyrValGlnAsnGlyThrTyrThrValLysIleValAlaIleSerGluAspTyrProArgLysThrIleThrGlyThrValLeuIleAsnValGluAspIleAsnAspAsnCysProThrLeuIleGluProValGlnThrIleCysHisAspAlaGluTyrValAsnValThrAlaGluAspLeuAspGlyHisProAsnSerGlyProPheSerPheSerValIleAspLysProProGlyMetAlaGluLysTrpLysIleAlaArgGlnGluSerThrSerValLeuLeuGlnGlnSerGluLysLysLeuGlyArgSerGluIleGlnPheLeuIleSerAspAsnGlnGlyPheSerCysProGluLysGlnValLeuThrLeuThrValCysGluCysLeuHisGlySerGlyCysArgGluAlaGlnHisAspSerTyrValGlyLeuGlyProAlaAlaIleAlaLeuMetIleLeuAlaPheLeuLeuLeuLeuLeuValProLeuLeuLeuLeuMetCysHisCysGlyLysGlyAlaLysGlyPheThrProIleProGlyThrIleGluMetLeuHisProTrpAsnAsnGluGlyAlaProProGluAspLysValValProSerPheLeuProValAspGlnGlyGlySerLeuValGlyArgAsnGlyValGlyGlyMetAlaLysGluAlaThrMetLysGlySerSerSerAlaSerIleValLysGlyGlnHisGluMetSerGluMetAspGlyArgTrpGluGluHisArgSerLeuLeuSerGlyArgAlaThrGlnPheThrGlyAlaThrGlyAlaIleMetThrThrGluThrThrLysThrAlaArgAlaThrGlyAlaSerArgAspMetAlaGlyAlaGlnAlaAlaAlaValAlaLeuAsnGluGluPheLeuArgAsnTyrPheThrAspLysAlaAlaSerTyrThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.918G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.918G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Trp306Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Trp306Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1127,
          "referenceAllele": "G",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Trp306Ter",
        "hgvsWellDefined": "ENSP00000261590.8:p.Trp306_Ser1118delinsLeuAlaAsnPheThrPheAlaSerGlyAsnGluGlyGlyTyrPheHisIleGluThrAspAlaGlnThrAsnGluGlyIleValThrLeuIleLysGluValAspTyrGluGluMetLysAsnLeuAspPheSerValIleValAlaAsnLysAlaAlaPheHisLysSerIleArgSerLysTyrLysProThrProIleProIleLysValLysValLysAsnValLysGluGlyIleHisPheLysSerSerValIleSerIleTyrValSerGluSerMetAspArgSerSerLysGlyGlnIleIleGlyAsnPheGlnAlaPheAspGluAspThrGlyLeuProAlaHisAlaArgTyrValLysLeuGluAspArgAspAsnTrpIleSerValAspSerValThrSerGluIleLysLeuAlaLysLeuProAspPheGluSerArgTyrValGlnAsnGlyThrTyrThrValLysIleValAlaIleSerGluAspTyrProArgLysThrIleThrGlyThrValLeuIleAsnValGluAspIleAsnAspAsnCysProThrLeuIleGluProValGlnThrIleCysHisAspAlaGluTyrValAsnValThrAlaGluAspLeuAspGlyHisProAsnSerGlyProPheSerPheSerValIleAspLysProProGlyMetAlaGluLysTrpLysIleAlaArgGlnGluSerThrSerValLeuLeuGlnGlnSerGluLysLysLeuGlyArgSerGluIleGlnPheLeuIleSerAspAsnGlnGlyPheSerCysProGluLysGlnValLeuThrLeuThrValCysGluCysLeuHisGlySerGlyCysArgGluAlaGlnHisAspSerTyrValGlyLeuGlyProAlaAlaIleAlaLeuMetIleLeuAlaPheLeuLeuLeuLeuLeuValProLeuLeuLeuLeuMetCysHisCysGlyLysGlyAlaLysGlyPheThrProIleProGlyThrIleGluMetLeuHisProTrpAsnAsnGluGlyAlaProProGluAspLysValValProSerPheLeuProValAspGlnGlyGlySerLeuValGlyArgAsnGlyValGlyGlyMetAlaLysGluAlaThrMetLysGlySerSerSerAlaSerIleValLysGlyGlnHisGluMetSerGluMetAspGlyArgTrpGluGluHisArgSerLeuLeuSerGlyArgAlaThrGlnPheThrGlyAlaThrGlyAlaIleMetThrThrGluThrThrLysThrAlaArgAlaThrGlyAlaSerArgAspMetAlaGlyAlaGlnAlaAlaAlaValAlaLeuAsnGluGluPheLeuArgAsnTyrPheThrAspLysAlaAlaSerTyrThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257634",
      "coordinates": [
        {
          "allele": "A",
          "end": 1106,
          "referenceAllele": "G",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.918G>A",
        "LRG_397t1:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Trp306Ter",
        "hgvsWellDefined": "NP_001934.2:p.Trp306_Ser1118delinsLeuAlaAsnPheThrPheAlaSerGlyAsnGluGlyGlyTyrPheHisIleGluThrAspAlaGlnThrAsnGluGlyIleValThrLeuIleLysGluValAspTyrGluGluMetLysAsnLeuAspPheSerValIleValAlaAsnLysAlaAlaPheHisLysSerIleArgSerLysTyrLysProThrProIleProIleLysValLysValLysAsnValLysGluGlyIleHisPheLysSerSerValIleSerIleTyrValSerGluSerMetAspArgSerSerLysGlyGlnIleIleGlyAsnPheGlnAlaPheAspGluAspThrGlyLeuProAlaHisAlaArgTyrValLysLeuGluAspArgAspAsnTrpIleSerValAspSerValThrSerGluIleLysLeuAlaLysLeuProAspPheGluSerArgTyrValGlnAsnGlyThrTyrThrValLysIleValAlaIleSerGluAspTyrProArgLysThrIleThrGlyThrValLeuIleAsnValGluAspIleAsnAspAsnCysProThrLeuIleGluProValGlnThrIleCysHisAspAlaGluTyrValAsnValThrAlaGluAspLeuAspGlyHisProAsnSerGlyProPheSerPheSerValIleAspLysProProGlyMetAlaGluLysTrpLysIleAlaArgGlnGluSerThrSerValLeuLeuGlnGlnSerGluLysLysLeuGlyArgSerGluIleGlnPheLeuIleSerAspAsnGlnGlyPheSerCysProGluLysGlnValLeuThrLeuThrValCysGluCysLeuHisGlySerGlyCysArgGluAlaGlnHisAspSerTyrValGlyLeuGlyProAlaAlaIleAlaLeuMetIleLeuAlaPheLeuLeuLeuLeuLeuValProLeuLeuLeuLeuMetCysHisCysGlyLysGlyAlaLysGlyPheThrProIleProGlyThrIleGluMetLeuHisProTrpAsnAsnGluGlyAlaProProGluAspLysValValProSerPheLeuProValAspGlnGlyGlySerLeuValGlyArgAsnGlyValGlyGlyMetAlaLysGluAlaThrMetLysGlySerSerSerAlaSerIleValLysGlyGlnHisGluMetSerGluMetAspGlyArgTrpGluGluHisArgSerLeuLeuSerGlyArgAlaThrGlnPheThrGlyAlaThrGlyAlaIleMetThrThrGluThrThrLysThrAlaArgAlaThrGlyAlaSerArgAspMetAlaGlyAlaGlnAlaAlaAlaValAlaLeuAsnGluGluPheLeuArgAsnTyrPheThrAspLysAlaAlaSerTyrThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257634",
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Trp306Ter",
        "hgvsWellDefined": "NP_001934.2:p.Trp306_Ser1118delinsLeuAlaAsnPheThrPheAlaSerGlyAsnGluGlyGlyTyrPheHisIleGluThrAspAlaGlnThrAsnGluGlyIleValThrLeuIleLysGluValAspTyrGluGluMetLysAsnLeuAspPheSerValIleValAlaAsnLysAlaAlaPheHisLysSerIleArgSerLysTyrLysProThrProIleProIleLysValLysValLysAsnValLysGluGlyIleHisPheLysSerSerValIleSerIleTyrValSerGluSerMetAspArgSerSerLysGlyGlnIleIleGlyAsnPheGlnAlaPheAspGluAspThrGlyLeuProAlaHisAlaArgTyrValLysLeuGluAspArgAspAsnTrpIleSerValAspSerValThrSerGluIleLysLeuAlaLysLeuProAspPheGluSerArgTyrValGlnAsnGlyThrTyrThrValLysIleValAlaIleSerGluAspTyrProArgLysThrIleThrGlyThrValLeuIleAsnValGluAspIleAsnAspAsnCysProThrLeuIleGluProValGlnThrIleCysHisAspAlaGluTyrValAsnValThrAlaGluAspLeuAspGlyHisProAsnSerGlyProPheSerPheSerValIleAspLysProProGlyMetAlaGluLysTrpLysIleAlaArgGlnGluSerThrSerValLeuLeuGlnGlnSerGluLysLysLeuGlyArgSerGluIleGlnPheLeuIleSerAspAsnGlnGlyPheSerCysProGluLysGlnValLeuThrLeuThrValCysGluCysLeuHisGlySerGlyCysArgGluAlaGlnHisAspSerTyrValGlyLeuGlyProAlaAlaIleAlaLeuMetIleLeuAlaPheLeuLeuLeuLeuLeuValProLeuLeuLeuLeuMetCysHisCysGlyLysGlyAlaLysGlyPheThrProIleProGlyThrIleGluMetLeuHisProTrpAsnAsnGluGlyAlaProProGluAspLysValValProSerPheLeuProValAspGlnGlyGlySerLeuValGlyArgAsnGlyValGlyGlyMetAlaLysGluAlaThrMetLysGlySerSerSerAlaSerIleValLysGlyGlnHisGluMetSerGluMetAspGlyArgTrpGluGluHisArgSerLeuLeuSerGlyArgAlaThrGlnPheThrGlyAlaThrGlyAlaIleMetThrThrGluThrThrLysThrAlaArgAlaThrGlyAlaSerArgAspMetAlaGlyAlaGlnAlaAlaAlaValAlaLeuAsnGluGluPheLeuArgAsnTyrPheThrAspLysAlaAlaSerTyrThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Trp128Ter",
        "hgvsWellDefined": "XP_024306863.1:p.Trp128_Ser940delinsLeuAlaAsnPheThrPheAlaSerGlyAsnGluGlyGlyTyrPheHisIleGluThrAspAlaGlnThrAsnGluGlyIleValThrLeuIleLysGluValAspTyrGluGluMetLysAsnLeuAspPheSerValIleValAlaAsnLysAlaAlaPheHisLysSerIleArgSerLysTyrLysProThrProIleProIleLysValLysValLysAsnValLysGluGlyIleHisPheLysSerSerValIleSerIleTyrValSerGluSerMetAspArgSerSerLysGlyGlnIleIleGlyAsnPheGlnAlaPheAspGluAspThrGlyLeuProAlaHisAlaArgTyrValLysLeuGluAspArgAspAsnTrpIleSerValAspSerValThrSerGluIleLysLeuAlaLysLeuProAspPheGluSerArgTyrValGlnAsnGlyThrTyrThrValLysIleValAlaIleSerGluAspTyrProArgLysThrIleThrGlyThrValLeuIleAsnValGluAspIleAsnAspAsnCysProThrLeuIleGluProValGlnThrIleCysHisAspAlaGluTyrValAsnValThrAlaGluAspLeuAspGlyHisProAsnSerGlyProPheSerPheSerValIleAspLysProProGlyMetAlaGluLysTrpLysIleAlaArgGlnGluSerThrSerValLeuLeuGlnGlnSerGluLysLysLeuGlyArgSerGluIleGlnPheLeuIleSerAspAsnGlnGlyPheSerCysProGluLysGlnValLeuThrLeuThrValCysGluCysLeuHisGlySerGlyCysArgGluAlaGlnHisAspSerTyrValGlyLeuGlyProAlaAlaIleAlaLeuMetIleLeuAlaPheLeuLeuLeuLeuLeuValProLeuLeuLeuLeuMetCysHisCysGlyLysGlyAlaLysGlyPheThrProIleProGlyThrIleGluMetLeuHisProTrpAsnAsnGluGlyAlaProProGluAspLysValValProSerPheLeuProValAspGlnGlyGlySerLeuValGlyArgAsnGlyValGlyGlyMetAlaLysGluAlaThrMetLysGlySerSerSerAlaSerIleValLysGlyGlnHisGluMetSerGluMetAspGlyArgTrpGluGluHisArgSerLeuLeuSerGlyArgAlaThrGlnPheThrGlyAlaThrGlyAlaIleMetThrThrGluThrThrLysThrAlaArgAlaThrGlyAlaSerArgAspMetAlaGlyAlaGlnAlaAlaAlaValAlaLeuAsnGluGluPheLeuArgAsnTyrPheThrAspLysAlaAlaSerTyrThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257634",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.918G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Trp306Ter",
        "hgvsWellDefined": "NP_001934.2:p.Trp306_Ser1118delinsLeuAlaAsnPheThrPheAlaSerGlyAsnGluGlyGlyTyrPheHisIleGluThrAspAlaGlnThrAsnGluGlyIleValThrLeuIleLysGluValAspTyrGluGluMetLysAsnLeuAspPheSerValIleValAlaAsnLysAlaAlaPheHisLysSerIleArgSerLysTyrLysProThrProIleProIleLysValLysValLysAsnValLysGluGlyIleHisPheLysSerSerValIleSerIleTyrValSerGluSerMetAspArgSerSerLysGlyGlnIleIleGlyAsnPheGlnAlaPheAspGluAspThrGlyLeuProAlaHisAlaArgTyrValLysLeuGluAspArgAspAsnTrpIleSerValAspSerValThrSerGluIleLysLeuAlaLysLeuProAspPheGluSerArgTyrValGlnAsnGlyThrTyrThrValLysIleValAlaIleSerGluAspTyrProArgLysThrIleThrGlyThrValLeuIleAsnValGluAspIleAsnAspAsnCysProThrLeuIleGluProValGlnThrIleCysHisAspAlaGluTyrValAsnValThrAlaGluAspLeuAspGlyHisProAsnSerGlyProPheSerPheSerValIleAspLysProProGlyMetAlaGluLysTrpLysIleAlaArgGlnGluSerThrSerValLeuLeuGlnGlnSerGluLysLysLeuGlyArgSerGluIleGlnPheLeuIleSerAspAsnGlnGlyPheSerCysProGluLysGlnValLeuThrLeuThrValCysGluCysLeuHisGlySerGlyCysArgGluAlaGlnHisAspSerTyrValGlyLeuGlyProAlaAlaIleAlaLeuMetIleLeuAlaPheLeuLeuLeuLeuLeuValProLeuLeuLeuLeuMetCysHisCysGlyLysGlyAlaLysGlyPheThrProIleProGlyThrIleGluMetLeuHisProTrpAsnAsnGluGlyAlaProProGluAspLysValValProSerPheLeuProValAspGlnGlyGlySerLeuValGlyArgAsnGlyValGlyGlyMetAlaLysGluAlaThrMetLysGlySerSerSerAlaSerIleValLysGlyGlnHisGluMetSerGluMetAspGlyArgTrpGluGluHisArgSerLeuLeuSerGlyArgAlaThrGlnPheThrGlyAlaThrGlyAlaIleMetThrThrGluThrThrLysThrAlaArgAlaThrGlyAlaSerArgAspMetAlaGlyAlaGlnAlaAlaAlaValAlaLeuAsnGluGluPheLeuArgAsnTyrPheThrAspLysAlaAlaSerTyrThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.918G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.918G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Trp306Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Trp306Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}