{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466520561",
  "communityStandardTitle": [
    "NM_000054.7(AVPR2):c.337C= (p.Arg113=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28935496",
        "rs": 28935496
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153905843,
          "referenceAllele": "C",
          "start": 153905842
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153905843C=",
        "CM000685.2:g.153905843C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153171297,
          "referenceAllele": "C",
          "start": 153171296
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153171297C=",
        "CM000685.1:g.153171297C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 152824491,
          "referenceAllele": "C",
          "start": 152824490
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152824491C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5870,
          "referenceAllele": "C",
          "start": 5869
        }
      ],
      "hgvs": [
        "NG_008687.1:g.5870C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8381,
          "referenceAllele": "G",
          "start": 8380
        }
      ],
      "hgvs": [
        "NG_009645.3:g.8381G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25418,
          "referenceAllele": "G",
          "start": 25417
        }
      ],
      "hgvs": [
        "NG_013220.1:g.25418G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002726"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000646375.2:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496396.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646375.2:c.337C="
          },
          "RefSeq": {
            "hgvs": "NM_000054.7:c.337C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496396.1:p.Arg113="
          },
          "RefSeq": {
            "hgvs": "NP_000045.1:p.Arg113="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 175,
          "referenceAllele": "C",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000434679.6:c.26-176C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393397.1:n.26-176C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 3227,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 3226
        }
      ],
      "hgvs": [
        "ENST00000642393.1:c.97+3227G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 3227,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 3226
        }
      ],
      "hgvs": [
        "ENST00000646191.1:c.97+3227G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000646375.1:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496396.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000337474.5:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338072.5:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000358927.6:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351805.2:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000370049.1:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359066.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000430697.1:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393513.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 175,
          "referenceAllele": "C",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "ENST00000434679.5:c.26-176C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393397.1:n.26-176C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 3227,
          "referenceAllele": "G",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000464967.5:n.154+3227G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190763",
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NM_000054.4:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000045.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NM_001146151.1:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139623.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 175,
          "referenceAllele": "C",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NR_027419.1:n.560-176C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "XM_006724828.2:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724891.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190763",
      "coordinates": [
        {
          "allele": "C",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NM_000054.5:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000045.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NM_001146151.2:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139623.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "XM_006724828.3:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724891.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541078"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190763",
      "coordinates": [
        {
          "allele": "C",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NM_000054.6:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000045.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NM_001146151.3:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139623.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 175,
          "referenceAllele": "C",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NR_027419.2:n.466-176C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190763",
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000897",
      "geneNCBI_id": 554,
      "geneSymbol": "AVPR2",
      "hgvs": [
        "NM_000054.7:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000045.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646375.2:c.337C="
          },
          "RefSeq": {
            "hgvs": "NM_000054.7:c.337C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496396.1:p.Arg113="
          },
          "RefSeq": {
            "hgvs": "NP_000045.1:p.Arg113="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}