{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2063070065",
  "communityStandardTitle": [
    "NM_000432.4(MYL2):c.401A= (p.Glu134=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143139258",
        "rs": 143139258
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 110913097,
          "referenceAllele": "T",
          "start": 110913096
        }
      ],
      "hgvs": [
        "NC_000012.12:g.110913097T=",
        "CM000674.2:g.110913097T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 111350901,
          "referenceAllele": "T",
          "start": 111350900
        }
      ],
      "hgvs": [
        "NC_000012.11:g.111350901T=",
        "CM000674.1:g.111350901T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 109835284,
          "referenceAllele": "T",
          "start": 109835283
        }
      ],
      "hgvs": [
        "NC_000012.10:g.109835284T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12481,
          "referenceAllele": "A",
          "start": 12480
        }
      ],
      "hgvs": [
        "NG_007554.1:g.12481A=",
        "LRG_393:g.12481A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000644"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000228841.15:c.401A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228841.8:p.Glu134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228841.15:c.401A="
          },
          "RefSeq": {
            "hgvs": "NM_000432.4:c.401A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228841.8:p.Glu134="
          },
          "RefSeq": {
            "hgvs": "NP_000423.2:p.Glu134="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "A",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000663220.1:c.344A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499568.1:p.Glu115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "A",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000228841.12:c.401A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228841.7:p.Glu134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "referenceAllele": "A",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000548438.1:c.359A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447154.1:p.Glu120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079303693",
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "A",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NM_000432.3:c.401A=",
        "LRG_393t1:c.401A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000423.2:p.Glu134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079303693",
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NM_000432.4:c.401A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000423.2:p.Glu134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228841.15:c.401A="
          },
          "RefSeq": {
            "hgvs": "NM_000432.4:c.401A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228841.8:p.Glu134="
          },
          "RefSeq": {
            "hgvs": "NP_000423.2:p.Glu134="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}