{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1594566",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.1652G>A (p.Arg551Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1182536",
        "active": true,
        "id": "COSM1182536"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=392641[alleleid]",
        "alleleId": 392641,
        "preferredName": "NM_004304.5(ALK):c.1652G>A (p.Arg551Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404361",
        "RCV": [
          "RCV000460471"
        ],
        "variationId": 404361
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-29519919-C-T",
        "id": "2-29519919-C-T",
        "variant": "2:29519919 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29519919C>T?assembly=hg19",
        "id": "chr2:g.29519919C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29297053C>T?assembly=hg38",
        "id": "chr2:g.29297053C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374136388",
        "rs": 374136388
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29519919-C-T?dataset=gnomad_r2_1",
        "id": "2-29519919-C-T",
        "variant": "2:29519919 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29297053-C-T?dataset=gnomad_r3",
        "id": "2-29297053-C-T",
        "variant": "2:29297053 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29297053-C-T?dataset=gnomad_r4",
        "id": "2-29297053-C-T",
        "variant": "2:29297053 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29297053,
          "referenceAllele": "C",
          "start": 29297052
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29297053C>T",
        "CM000664.2:g.29297053C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29519919,
          "referenceAllele": "C",
          "start": 29519918
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29519919C>T",
        "CM000664.1:g.29519919C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29373423,
          "referenceAllele": "C",
          "start": 29373422
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29373423C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629514,
          "referenceAllele": "G",
          "start": 629513
        }
      ],
      "hgvs": [
        "NG_009445.1:g.629514G>A",
        "LRG_488:g.629514G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2579,
          "referenceAllele": "G",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.1652G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg551Gln",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg551Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1652G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1652G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg551Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg551Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2559,
          "referenceAllele": "G",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.1652G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg551Gln",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg551Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000498037.1:n.207G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.521G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Arg174Gln",
        "hgvsWellDefined": "ENSP00000482733.1:p.Arg174Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645488385",
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.1652G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg551Gln",
        "hgvsWellDefined": "NP_004295.2:p.Arg551Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2582,
          "referenceAllele": "G",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.2582G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645488385",
      "coordinates": [
        {
          "allele": "A",
          "end": 2579,
          "referenceAllele": "G",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.1652G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg551Gln",
        "hgvsWellDefined": "NP_004295.2:p.Arg551Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1652G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1652G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg551Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg551Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}