{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1602355915",
  "communityStandardTitle": [
    "NM_002449.5(MSX2):c.443C= (p.Pro148=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893895",
        "rs": 104893895
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 174729222,
          "referenceAllele": "C",
          "start": 174729221
        }
      ],
      "hgvs": [
        "NC_000005.10:g.174729222C=",
        "CM000667.2:g.174729222C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 174156225,
          "referenceAllele": "C",
          "start": 174156224
        }
      ],
      "hgvs": [
        "NC_000005.9:g.174156225C=",
        "CM000667.1:g.174156225C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 174088831,
          "referenceAllele": "C",
          "start": 174088830
        }
      ],
      "hgvs": [
        "NC_000005.8:g.174088831C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9651,
          "referenceAllele": "C",
          "start": 9650
        }
      ],
      "hgvs": [
        "NG_008124.1:g.9651C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000869"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "ENST00000239243.7:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000239243.5:p.Pro148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239243.7:c.443C="
          },
          "RefSeq": {
            "hgvs": "NM_002449.5:c.443C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000239243.5:p.Pro148="
          },
          "RefSeq": {
            "hgvs": "NP_002440.2:p.Pro148="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "ENST00000239243.6:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000239243.5:p.Pro148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "ENST00000507785.2:c.*67C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427425.1:n.*67C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829385091",
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "NM_002449.4:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002440.2:p.Pro148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "NM_001363626.1:c.*67C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350555.1:n.*67C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829385091",
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "NM_002449.5:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002440.2:p.Pro148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665534",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000239243.7:c.443C="
          },
          "RefSeq": {
            "hgvs": "NM_002449.5:c.443C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000239243.5:p.Pro148="
          },
          "RefSeq": {
            "hgvs": "NP_002440.2:p.Pro148="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "NM_001363626.2:c.*67C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350555.1:n.*67C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690715"
    }
  ],
  "type": "nucleotide"
}