{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346590726",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.82C>G (p.Arg28Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=942888[alleleid]",
        "alleleId": 942888,
        "preferredName": "NM_004304.5(ALK):c.82C>G (p.Arg28Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/957941",
        "RCV": [
          "RCV001231016"
        ],
        "variationId": 957941
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.30143444G>C?assembly=hg19",
        "id": "chr2:g.30143444G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29920578G>C?assembly=hg38",
        "id": "chr2:g.29920578G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500231",
        "rs": 1060500231
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29920578,
          "referenceAllele": "G",
          "start": 29920577
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29920578G>C",
        "CM000664.2:g.29920578G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 30143444,
          "referenceAllele": "G",
          "start": 30143443
        }
      ],
      "hgvs": [
        "NC_000002.11:g.30143444G>C",
        "CM000664.1:g.30143444G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29996948,
          "referenceAllele": "G",
          "start": 29996947
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29996948G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5989,
          "referenceAllele": "C",
          "start": 5988
        }
      ],
      "hgvs": [
        "NG_009445.1:g.5989C>G",
        "LRG_488:g.5989C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.82C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg28Gly",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg28Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.82C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.82C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg28Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg28Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.82C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg28Gly",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg28Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717432",
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.82C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg28Gly",
        "hgvsWellDefined": "NP_004295.2:p.Arg28Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.1012C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717432",
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.82C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg28Gly",
        "hgvsWellDefined": "NP_004295.2:p.Arg28Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.82C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.82C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg28Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg28Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}