{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139773023",
  "communityStandardTitle": [
    "NM_001956.5(EDN2):c.*390G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5800",
        "rs": 5800
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 41479019,
          "referenceAllele": "C",
          "start": 41479018
        }
      ],
      "hgvs": [
        "NC_000001.11:g.41479019C=",
        "CM000663.2:g.41479019C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 41944690,
          "referenceAllele": "C",
          "start": 41944689
        }
      ],
      "hgvs": [
        "NC_000001.10:g.41944690C=",
        "CM000663.1:g.41944690C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 41717277,
          "referenceAllele": "C",
          "start": 41717276
        }
      ],
      "hgvs": [
        "NC_000001.9:g.41717277C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "ENST00000372587.5:c.*390G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361668.4:n.*390G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751042",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372587.5:c.*390G="
          },
          "RefSeq": {
            "hgvs": "NM_001956.5:c.*390G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361668.4:n.*390G="
          },
          "RefSeq": {
            "hgvs": "NP_001947.1:n.*390G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "ENST00000372587.4:c.*390G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361668.4:n.*390G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "G",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "NM_001302269.1:c.*390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289198.1:n.*390G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "NM_001956.4:c.*390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001947.1:n.*390G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "NR_126098.1:n.918G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "XM_017000512.1:c.*390G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856001.1:n.*390G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "NM_001956.5:c.*390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001947.1:n.*390G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372587.5:c.*390G="
          },
          "RefSeq": {
            "hgvs": "NM_001956.5:c.*390G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361668.4:n.*390G="
          },
          "RefSeq": {
            "hgvs": "NP_001947.1:n.*390G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "G",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "NM_001302269.2:c.*390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289198.1:n.*390G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003177",
      "geneNCBI_id": 1907,
      "geneSymbol": "EDN2",
      "hgvs": [
        "NR_126098.2:n.918G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703270"
    }
  ],
  "type": "nucleotide"
}