{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344639959",
  "communityStandardTitle": [
    "NM_018060.4(IARS2):c.1821G>C (p.Trp607Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220300169G>C?assembly=hg19",
        "id": "chr1:g.220300169G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220126827G>C?assembly=hg38",
        "id": "chr1:g.220126827G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220126827,
          "referenceAllele": "G",
          "start": 220126826
        }
      ],
      "hgvs": [
        "NC_000001.11:g.220126827G>C",
        "CM000663.2:g.220126827G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220300169,
          "referenceAllele": "G",
          "start": 220300168
        }
      ],
      "hgvs": [
        "NC_000001.10:g.220300169G>C",
        "CM000663.1:g.220300169G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 218366792,
          "referenceAllele": "G",
          "start": 218366791
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218366792G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37715,
          "referenceAllele": "G",
          "start": 37714
        }
      ],
      "hgvs": [
        "NG_041799.1:g.37715G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005869"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
      "geneSymbol": "IARS2",
      "hgvs": [
        "ENST00000366922.3:c.1821G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355889.2:p.Trp607Cys",
        "hgvsWellDefined": "ENSP00000355889.2:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366922.3:c.1821G>C"
          },
          "RefSeq": {
            "hgvs": "NM_018060.4:c.1821G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355889.2:p.Trp607Cys"
          },
          "RefSeq": {
            "hgvs": "NP_060530.3:p.Trp607Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
      "geneSymbol": "IARS2",
      "hgvs": [
        "ENST00000366922.2:c.1821G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355889.2:p.Trp607Cys",
        "hgvsWellDefined": "ENSP00000355889.2:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205,
          "referenceAllele": "G",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
      "geneSymbol": "IARS2",
      "hgvs": [
        "ENST00000490891.1:n.205G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064099823",
      "coordinates": [
        {
          "allele": "C",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
      "geneSymbol": "IARS2",
      "hgvs": [
        "NM_018060.3:c.1821G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060530.3:p.Trp607Cys",
        "hgvsWellDefined": "NP_060530.3:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064099823",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
      "geneSymbol": "IARS2",
      "hgvs": [
        "NM_018060.4:c.1821G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060530.3:p.Trp607Cys",
        "hgvsWellDefined": "NP_060530.3:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366922.3:c.1821G>C"
          },
          "RefSeq": {
            "hgvs": "NM_018060.4:c.1821G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355889.2:p.Trp607Cys"
          },
          "RefSeq": {
            "hgvs": "NP_060530.3:p.Trp607Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}