{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2247221280",
  "communityStandardTitle": [
    "NM_002472.3(MYH8):c.2021G= (p.Arg674=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434590",
        "rs": 121434590
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 10406924,
          "referenceAllele": "C",
          "start": 10406923
        }
      ],
      "hgvs": [
        "NC_000017.11:g.10406924C=",
        "CM000679.2:g.10406924C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 10310241,
          "referenceAllele": "C",
          "start": 10310240
        }
      ],
      "hgvs": [
        "NC_000017.10:g.10310241C=",
        "CM000679.1:g.10310241C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 10250966,
          "referenceAllele": "C",
          "start": 10250965
        }
      ],
      "hgvs": [
        "NC_000017.9:g.10250966C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20027,
          "referenceAllele": "G",
          "start": 20026
        }
      ],
      "hgvs": [
        "NG_013015.1:g.20027G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002662"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "ENST00000403437.2:c.2021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384330.2:p.Arg674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403437.2:c.2021G="
          },
          "RefSeq": {
            "hgvs": "NM_002472.3:c.2021G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384330.2:p.Arg674="
          },
          "RefSeq": {
            "hgvs": "NP_002463.2:p.Arg674="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083973815",
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "NM_002472.2:c.2021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002463.2:p.Arg674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 686,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN050609",
      "geneNCBI_id": 100128560,
      "geneSymbol": "MYHAS",
      "hgvs": [
        "NR_125367.1:n.167+686C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2095,
          "referenceAllele": "G",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "XM_011523873.1:c.2021G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522175.1:p.Arg674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "XM_011523874.1:c.2021G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522176.1:p.Arg674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083973815",
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "NM_002472.3:c.2021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002463.2:p.Arg674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403437.2:c.2021G="
          },
          "RefSeq": {
            "hgvs": "NM_002472.3:c.2021G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384330.2:p.Arg674="
          },
          "RefSeq": {
            "hgvs": "NP_002463.2:p.Arg674="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}