{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6559345",
  "communityStandardTitle": [
    "NM_000486.6(AQP2):c.702G>A (p.Leu234=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=738691[alleleid]",
        "alleleId": 738691,
        "preferredName": "NM_000486.6(AQP2):c.702G>A (p.Leu234=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/724199",
        "RCV": [
          "RCV000898073",
          "RCV001276978",
          "RCV003950505"
        ],
        "variationId": 724199
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-50349277-G-A",
        "id": "12-50349277-G-A",
        "variant": "12:50349277 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.50349277G>A?assembly=hg19",
        "id": "chr12:g.50349277G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49955494G>A?assembly=hg38",
        "id": "chr12:g.49955494G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143104356",
        "rs": 143104356
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-50349277-G-A?dataset=gnomad_r2_1",
        "id": "12-50349277-G-A",
        "variant": "12:50349277 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49955494-G-A?dataset=gnomad_r3",
        "id": "12-49955494-G-A",
        "variant": "12:49955494 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49955494-G-A?dataset=gnomad_r4",
        "id": "12-49955494-G-A",
        "variant": "12:49955494 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49955494,
          "referenceAllele": "G",
          "start": 49955493
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49955494G>A",
        "CM000674.2:g.49955494G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 50349277,
          "referenceAllele": "G",
          "start": 50349276
        }
      ],
      "hgvs": [
        "NC_000012.11:g.50349277G>A",
        "CM000674.1:g.50349277G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 48635544,
          "referenceAllele": "G",
          "start": 48635543
        }
      ],
      "hgvs": [
        "NC_000012.10:g.48635544G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9754,
          "referenceAllele": "G",
          "start": 9753
        }
      ],
      "hgvs": [
        "NG_008913.1:g.9754G>A",
        "LRG_717:g.9754G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001292"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000199280.4:c.702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000199280.3:p.Leu234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000199280.4:c.702G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000486.6:c.702G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199280.3:p.Leu234="
          },
          "RefSeq": {
            "hgvs": "NP_000477.1:p.Leu234="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000199280.3:c.702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000199280.3:p.Leu234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "endIntronDirection": "+",
          "endIntronOffset": 71,
          "referenceAllele": "G",
          "start": 721,
          "startIntronDirection": "+",
          "startIntronOffset": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000551526.5:c.631+71G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447148.1:n.631+71G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188107",
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NM_000486.5:c.702G>A",
        "LRG_717t1:c.702G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000477.1:p.Leu234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 1145,
          "referenceAllele": "C",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055474",
      "geneNCBI_id": 101927318,
      "geneSymbol": "AQP5-AS1",
      "hgvs": [
        "NR_110590.1:n.257-1146C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "endIntronDirection": "-",
          "endIntronOffset": 3405,
          "referenceAllele": "C",
          "start": 117,
          "startIntronDirection": "-",
          "startIntronOffset": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055474",
      "geneNCBI_id": 101927318,
      "geneSymbol": "AQP5-AS1",
      "hgvs": [
        "NR_110591.1:n.118-3406C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188107",
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NM_000486.6:c.702G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000477.1:p.Leu234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000199280.4:c.702G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000486.6:c.702G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199280.3:p.Leu234="
          },
          "RefSeq": {
            "hgvs": "NP_000477.1:p.Leu234="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}