{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620680",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410354[alleleid]",
        "alleleId": 410354,
        "preferredName": "NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419603",
        "RCV": [
          "RCV000486822",
          "RCV001170379"
        ],
        "variationId": 419603
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.29125698C>A?assembly=hg19",
        "id": "chr18:g.29125698C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31545735C>A?assembly=hg38",
        "id": "chr18:g.31545735C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793983",
        "rs": 1064793983
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-29125698-C-A?dataset=gnomad_r2_1",
        "id": "18-29125698-C-A",
        "variant": "18:29125698 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31545735-C-A?dataset=gnomad_r4",
        "id": "18-31545735-C-A",
        "variant": "18:31545735 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 31545735,
          "referenceAllele": "C",
          "start": 31545734
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31545735C>A",
        "CM000680.2:g.31545735C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 29125698,
          "referenceAllele": "C",
          "start": 29125697
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29125698C>A",
        "CM000680.1:g.29125698C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 27379696,
          "referenceAllele": "C",
          "start": 27379695
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27379696C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52494,
          "referenceAllele": "C",
          "start": 52493
        }
      ],
      "hgvs": [
        "NG_007072.3:g.52494C>A",
        "LRG_397:g.52494C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2424,
          "referenceAllele": "C",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.2349C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Tyr783Ter",
        "hgvsWellDefined": "ENSP00000261590.8:p.Tyr783_Ser1118delinsThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.2349C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.2349C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Tyr783Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Tyr783Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.2349C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Tyr783Ter",
        "hgvsWellDefined": "ENSP00000261590.8:p.Tyr783_Ser1118delinsThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645511041",
      "coordinates": [
        {
          "allele": "A",
          "end": 2537,
          "referenceAllele": "C",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.2349C>A",
        "LRG_397t1:c.2349C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Tyr783Ter",
        "hgvsWellDefined": "NP_001934.2:p.Tyr783_Ser1118delinsThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1516,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1516,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051311",
      "geneNCBI_id": 100652770,
      "geneSymbol": "DSG2-AS1",
      "hgvs": [
        "NR_045216.1:n.1516+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645511041",
      "coordinates": [
        {
          "allele": "A",
          "end": 2597,
          "referenceAllele": "C",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.2349C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Tyr783Ter",
        "hgvsWellDefined": "NP_001934.2:p.Tyr783_Ser1118delinsThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.1815C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Tyr605Ter",
        "hgvsWellDefined": "XP_024306863.1:p.Tyr605_Ser940delinsThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645511041",
      "coordinates": [
        {
          "allele": "A",
          "end": 2424,
          "referenceAllele": "C",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.2349C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Tyr783Ter",
        "hgvsWellDefined": "NP_001934.2:p.Tyr783_Ser1118delinsThrGluGluAspGluAsnHisThrAlaLysAspCysLeuLeuValTyrSerGlnGluGluThrGluSerLeuAsnAlaSerIleGlyCysCysSerPheIleGluGlyGluLeuAspAspArgPheLeuAspAspLeuGlyLeuLysPheLysThrLeuAlaGluValCysLeuGlyGlnLysIleAspIleAsnLysGluIleGluGlnArgGlnLysProAlaThrGluThrSerMetAsnThrAlaSerHisSerLeuCysGluGlnThrMetValAsnSerGluAsnThrTyrSerSerGlySerSerPheProValProLysSerLeuGlnGluAlaAsnAlaGluLysValThrGlnGluIleValThrGluArgSerValSerSerArgGlnAlaGlnLysValAlaThrProLeuProAspProMetAlaSerArgAsnValIleAlaThrGluThrSerTyrValThrGlySerThrMetProProThrThrValIleLeuGlyProSerGlnProGlnSerLeuIleValThrGluArgValTyrAlaProAlaSerThrLeuValAspGlnProTyrAlaAsnGluGlyThrValValValThrGluArgValIleGlnProHisGlyGlyGlySerAsnProLeuGluGlyThrGlnHisLeuGlnAspValProTyrValMetValArgGluArgGluSerPheLeuAlaProSerSerGlyValGlnProThrLeuAlaMetProAsnIleAlaValGlyGlnAsnValThrValThrGluArgValLeuAlaProAlaSerThrLeuGlnSerSerTyrGlnIleProThrGluAsnSerMetThrAlaArgAsnThrThrValSerGlyAlaGlyValProGlyProLeuProAspPheGlyLeuGluGluSerGlyHisSerAsnSerThrIleThrThrSerSerThrArgValThrLysHisSerThrValGlnHisSerTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.2349C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.2349C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Tyr783Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Tyr783Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}