{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2125199",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.985C>T (p.Gln329Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=511071[alleleid]",
        "alleleId": 511071,
        "preferredName": "NM_001927.4(DES):c.985C>T (p.Gln329Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520492",
        "RCV": [
          "RCV000622709",
          "RCV002223889",
          "RCV002265821",
          "RCV002385957",
          "RCV002531873"
        ],
        "variationId": 520492
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-220285637-C-T",
        "id": "2-220285637-C-T",
        "variant": "2:220285637 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220285637C>T?assembly=hg19",
        "id": "chr2:g.220285637C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219420915C>T?assembly=hg38",
        "id": "chr2:g.219420915C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759320891",
        "rs": 759320891
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-220285637-C-T?dataset=gnomad_r2_1",
        "id": "2-220285637-C-T",
        "variant": "2:220285637 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219420915-C-T?dataset=gnomad_r4",
        "id": "2-219420915-C-T",
        "variant": "2:219420915 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219420915,
          "referenceAllele": "C",
          "start": 219420914
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219420915C>T",
        "CM000664.2:g.219420915C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220285637,
          "referenceAllele": "C",
          "start": 220285636
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220285637C>T",
        "CM000664.1:g.220285637C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219993881,
          "referenceAllele": "C",
          "start": 219993880
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219993881C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7539,
          "referenceAllele": "C",
          "start": 7538
        }
      ],
      "hgvs": [
        "NG_008043.1:g.7539C>T",
        "LRG_380:g.7539C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.6:n.459C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000683013.1:n.373C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln329Ter",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln329_Leu470delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.985C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.985C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln329Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln329Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln329Ter",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln329_Leu470delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.5:n.457C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000492726.1:n.380C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811817",
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.985C>T",
        "LRG_380t1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln329Ter",
        "hgvsWellDefined": "NP_001918.3:p.Gln329_Leu470delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811817",
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln329Ter",
        "hgvsWellDefined": "NP_001918.3:p.Gln329_Leu470delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.985C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.985C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln329Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln329Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.982C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Gln328Ter",
        "hgvsWellDefined": "NP_001369637.1:p.Gln328_Leu469delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 568,
          "referenceAllele": "C",
          "start": 821,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.736-569C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:n.736-569C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:p.Gln329Ter",
        "hgvsWellDefined": "NP_001369639.1:p.Gln329_Leu447delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Gln329Ter",
        "hgvsWellDefined": "NP_001369640.1:p.Gln329_Leu463delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Gln329Ter",
        "hgvsWellDefined": "NP_001369641.1:p.Gln329_Asp465delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValLeuGluValGlyAlaGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Gln239Ter",
        "hgvsWellDefined": "NP_001369642.1:p.Gln239_Leu380delinsSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}