{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2346406045",
  "communityStandardTitle": [
    "NM_000490.5(AVP):c.120+252G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2282018",
        "rs": 2282018
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 3084303,
          "referenceAllele": "C",
          "start": 3084302
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3084303C=",
        "CM000682.2:g.3084303C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 3064949,
          "referenceAllele": "C",
          "start": 3064948
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3064949C=",
        "CM000682.1:g.3064949C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 3012949,
          "referenceAllele": "C",
          "start": 3012948
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3012949C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5422,
          "referenceAllele": "G",
          "start": 5421
        }
      ],
      "hgvs": [
        "NG_008663.1:g.5422G=",
        "LRG_715:g.5422G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001155"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 252,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000894",
      "geneNCBI_id": 551,
      "geneSymbol": "AVP",
      "hgvs": [
        "ENST00000380293.3:c.120+252G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369647.3:n.120+252G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380293.3:c.120+252G="
          },
          "RefSeq": {
            "hgvs": "NM_000490.5:c.120+252G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369647.3:n.120+252G="
          },
          "RefSeq": {
            "hgvs": "NP_000481.2:n.120+252G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 252,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000894",
      "geneNCBI_id": 551,
      "geneSymbol": "AVP",
      "hgvs": [
        "NM_000490.4:c.120+252G=",
        "LRG_715t1:c.120+252G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000481.2:n.120+252G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "endIntronDirection": "+",
          "endIntronOffset": 252,
          "referenceAllele": "G",
          "start": 1700,
          "startIntronDirection": "+",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000894",
      "geneNCBI_id": 551,
      "geneSymbol": "AVP",
      "hgvs": [
        "XM_011529267.1:c.120+252G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527569.1:n.120+252G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "endIntronDirection": "+",
          "endIntronOffset": 252,
          "referenceAllele": "G",
          "start": 1700,
          "startIntronDirection": "+",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000894",
      "geneNCBI_id": 551,
      "geneSymbol": "AVP",
      "hgvs": [
        "XM_011529267.2:c.120+252G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527569.1:n.120+252G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 252,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000894",
      "geneNCBI_id": 551,
      "geneSymbol": "AVP",
      "hgvs": [
        "NM_000490.5:c.120+252G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000481.2:n.120+252G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674866",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380293.3:c.120+252G="
          },
          "RefSeq": {
            "hgvs": "NM_000490.5:c.120+252G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369647.3:n.120+252G="
          },
          "RefSeq": {
            "hgvs": "NP_000481.2:n.120+252G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}