{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2285919443",
  "communityStandardTitle": [
    "NM_000529.2(MC2R):c.376G= (p.Ala126=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607231",
        "rs": 267607231
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 13885143,
          "referenceAllele": "C",
          "start": 13885142
        }
      ],
      "hgvs": [
        "NC_000018.10:g.13885143C=",
        "CM000680.2:g.13885143C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 13885142,
          "referenceAllele": "C",
          "start": 13885141
        }
      ],
      "hgvs": [
        "NC_000018.9:g.13885142C=",
        "CM000680.1:g.13885142C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 13875142,
          "referenceAllele": "C",
          "start": 13875141
        }
      ],
      "hgvs": [
        "NC_000018.8:g.13875142C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35394,
          "referenceAllele": "G",
          "start": 35393
        }
      ],
      "hgvs": [
        "NG_011819.1:g.35394G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "ENST00000327606.4:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333821.2:p.Ala126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746852",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327606.4:c.376G="
          },
          "RefSeq": {
            "hgvs": "NM_000529.2:c.376G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333821.2:p.Ala126="
          },
          "RefSeq": {
            "hgvs": "NP_000520.1:p.Ala126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "ENST00000327606.3:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333821.2:p.Ala126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085452041",
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "NM_000529.2:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000520.1:p.Ala126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327606.4:c.376G="
          },
          "RefSeq": {
            "hgvs": "NM_000529.2:c.376G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333821.2:p.Ala126="
          },
          "RefSeq": {
            "hgvs": "NP_000520.1:p.Ala126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "NM_001291911.1:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278840.1:p.Ala126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "XM_017025781.1:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881270.1:p.Ala126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576069"
    }
  ],
  "type": "nucleotide"
}