{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357616589",
  "communityStandardTitle": [
    "NM_000297.4(PKD2):c.1319+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424508[alleleid]",
        "alleleId": 424508,
        "preferredName": "NM_000297.4(PKD2):c.1319+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430967",
        "RCV": [
          "RCV000496001",
          "RCV000542204",
          "RCV000992621",
          "RCV001292205",
          "RCV000622691"
        ],
        "variationId": 430967
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88964610G>A?assembly=hg19",
        "id": "chr4:g.88964610G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88043458G>A?assembly=hg38",
        "id": "chr4:g.88043458G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131692280",
        "rs": 1131692280
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88964610-G-A?dataset=gnomad_r2_1",
        "id": "4-88964610-G-A",
        "variant": "4:88964610 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88043458-G-A?dataset=gnomad_r3",
        "id": "4-88043458-G-A",
        "variant": "4:88043458 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88043458-G-A?dataset=gnomad_r4",
        "id": "4-88043458-G-A",
        "variant": "4:88043458 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 88043458,
          "referenceAllele": "G",
          "start": 88043457
        }
      ],
      "hgvs": [
        "NC_000004.12:g.88043458G>A",
        "CM000666.2:g.88043458G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 88964610,
          "referenceAllele": "G",
          "start": 88964609
        }
      ],
      "hgvs": [
        "NC_000004.11:g.88964610G>A",
        "CM000666.1:g.88964610G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 89183634,
          "referenceAllele": "G",
          "start": 89183633
        }
      ],
      "hgvs": [
        "NC_000004.10:g.89183634G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40791,
          "referenceAllele": "G",
          "start": 40790
        }
      ],
      "hgvs": [
        "NG_008604.1:g.40791G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001124"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1418,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000237596.7:c.1319+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237596.2:n.1319+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741004",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.1319+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.1319+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:n.1319+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:n.1319+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1385,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000237596.6:c.1319+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237596.2:n.1319+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000508588.5:c.-199+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427131.1:n.-199+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.3:c.1319+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:n.1319+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1183,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 1183,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.1:c.1095-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:n.1095-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532029.1:c.599+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530331.1:n.599+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 574,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 574,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532030.1:c.479+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:n.479+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XR_244632.2:n.1414+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.1:n.1406+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 1174,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.2:c.1095-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:n.1095-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 737,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532030.2:c.479+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:n.479+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1418,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.1319+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:n.1319+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.1319+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.1319+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:n.1319+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:n.1319+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1418,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.1418+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}