{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1474562212",
  "communityStandardTitle": [
    "NM_000297.4(PKD2):c.145C= (p.Gln49=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518906",
        "rs": 1057518906
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 88007878,
          "referenceAllele": "C",
          "start": 88007877
        }
      ],
      "hgvs": [
        "NC_000004.12:g.88007878C=",
        "CM000666.2:g.88007878C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 88929030,
          "referenceAllele": "C",
          "start": 88929029
        }
      ],
      "hgvs": [
        "NC_000004.11:g.88929030C=",
        "CM000666.1:g.88929030C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 89148054,
          "referenceAllele": "C",
          "start": 89148053
        }
      ],
      "hgvs": [
        "NC_000004.10:g.89148054C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5211,
          "referenceAllele": "C",
          "start": 5210
        }
      ],
      "hgvs": [
        "NG_008604.1:g.5211C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001124"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000237596.7:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237596.2:p.Gln49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741004",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.145C="
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.145C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Gln49="
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Gln49="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000237596.6:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237596.2:p.Gln49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070287116",
      "coordinates": [
        {
          "allele": "C",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.3:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Gln49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 234,
          "referenceAllele": "C",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.1:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Gln49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XR_244632.2:n.240C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.1:n.232C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.2:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Gln49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070287116",
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Gln49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.145C="
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.145C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Gln49="
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Gln49="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.244C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}