{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2063072761",
  "communityStandardTitle": [
    "NM_000432.4(MYL2):c.173G= (p.Arg58=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894369",
        "rs": 104894369
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 110914287,
          "referenceAllele": "C",
          "start": 110914286
        }
      ],
      "hgvs": [
        "NC_000012.12:g.110914287C=",
        "CM000674.2:g.110914287C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 111352091,
          "referenceAllele": "C",
          "start": 111352090
        }
      ],
      "hgvs": [
        "NC_000012.11:g.111352091C=",
        "CM000674.1:g.111352091C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 109836474,
          "referenceAllele": "C",
          "start": 109836473
        }
      ],
      "hgvs": [
        "NC_000012.10:g.109836474C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11291,
          "referenceAllele": "G",
          "start": 11290
        }
      ],
      "hgvs": [
        "NG_007554.1:g.11291G=",
        "LRG_393:g.11291G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000644"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000228841.15:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228841.8:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228841.15:c.173G="
          },
          "RefSeq": {
            "hgvs": "NM_000432.4:c.173G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228841.8:p.Arg58="
          },
          "RefSeq": {
            "hgvs": "NP_000423.2:p.Arg58="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000663220.1:c.116G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499568.1:p.Arg39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000228841.12:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228841.7:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 177,
          "referenceAllele": "G",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000548438.1:c.131G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447154.1:p.Arg44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4,
          "referenceAllele": "G",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000549029.1:n.4G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825169911",
      "coordinates": [
        {
          "allele": "G",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NM_000432.3:c.173G=",
        "LRG_393t1:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000423.2:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825169911",
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NM_000432.4:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000423.2:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228841.15:c.173G="
          },
          "RefSeq": {
            "hgvs": "NM_000432.4:c.173G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228841.8:p.Arg58="
          },
          "RefSeq": {
            "hgvs": "NP_000423.2:p.Arg58="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}