{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2285200422",
  "communityStandardTitle": [
    "NM_006796.3(AFG3L2):c.1951A= (p.Arg651=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764254189",
        "rs": 764254189
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 12340230,
          "referenceAllele": "T",
          "start": 12340229
        }
      ],
      "hgvs": [
        "NC_000018.10:g.12340230T=",
        "CM000680.2:g.12340230T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 12340229,
          "referenceAllele": "T",
          "start": 12340228
        }
      ],
      "hgvs": [
        "NC_000018.9:g.12340229T=",
        "CM000680.1:g.12340229T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 12330229,
          "referenceAllele": "T",
          "start": 12330228
        }
      ],
      "hgvs": [
        "NC_000018.8:g.12330229T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42047,
          "referenceAllele": "A",
          "start": 42046
        }
      ],
      "hgvs": [
        "NG_023361.1:g.42047A=",
        "LRG_666:g.42047A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "referenceAllele": "A",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000687337.1:c.*1547A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508998.1:n.*1547A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000687477.1:n.487A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1840,
          "referenceAllele": "A",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000688199.1:c.1813A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510237.1:p.Arg605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691179.1:c.1876A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509010.1:p.Arg626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1722,
          "referenceAllele": "A",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691970.1:c.*1328A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508440.1:n.*1328A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692497.1:c.*381A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509870.1:n.*381A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "A",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692988.1:n.1769A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.8:c.1951A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Arg651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743090",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.1951A="
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.1951A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Arg651="
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Arg651="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "A",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.7:c.1951A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Arg651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 3818,
          "referenceAllele": "T",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020776",
      "geneNCBI_id": 84617,
      "geneSymbol": "TUBB6",
      "hgvs": [
        "ENST00000586691.1:c.88-3819T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829661382",
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "A",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.2:c.1951A=",
        "LRG_666t1:c.1951A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Arg651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2006,
          "endIntronDirection": "-",
          "endIntronOffset": 2694,
          "referenceAllele": "A",
          "start": 2006,
          "startIntronDirection": "-",
          "startIntronOffset": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.1:c.1780-2695A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:n.1780-2695A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2006,
          "endIntronDirection": "-",
          "endIntronOffset": 2694,
          "referenceAllele": "A",
          "start": 2006,
          "startIntronDirection": "-",
          "startIntronOffset": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.3:c.1780-2695A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:n.1780-2695A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 1650,
          "referenceAllele": "T",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 1649
        }
      ],
      "hgvs": [
        "XR_001753363.1:n.415+1650T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 3327
        }
      ],
      "hgvs": [
        "XR_002958227.1:n.451+3328T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829661382",
      "coordinates": [
        {
          "allele": "A",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.3:c.1951A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Arg651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696819",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.1951A="
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.1951A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Arg651="
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Arg651="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}