{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1594727",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450924[alleleid]",
        "alleleId": 450924,
        "preferredName": "NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/470739",
        "RCV": [
          "RCV000542876",
          "RCV002255453"
        ],
        "variationId": 470739
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-29606697-G-A",
        "id": "2-29606697-G-A",
        "variant": "2:29606697 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29606697G>A?assembly=hg19",
        "id": "chr2:g.29606697G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29383831G>A?assembly=hg38",
        "id": "chr2:g.29383831G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779282861",
        "rs": 779282861
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29606697-G-A?dataset=gnomad_r2_1",
        "id": "2-29606697-G-A",
        "variant": "2:29606697 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29383831-G-A?dataset=gnomad_r3",
        "id": "2-29383831-G-A",
        "variant": "2:29383831 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29383831-G-A?dataset=gnomad_r4",
        "id": "2-29383831-G-A",
        "variant": "2:29383831 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29383831,
          "referenceAllele": "G",
          "start": 29383830
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29383831G>A",
        "CM000664.2:g.29383831G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29606697,
          "referenceAllele": "G",
          "start": 29606696
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29606697G>A",
        "CM000664.1:g.29606697G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29460201,
          "referenceAllele": "G",
          "start": 29460200
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29460201G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542736,
          "referenceAllele": "C",
          "start": 542735
        }
      ],
      "hgvs": [
        "NG_009445.1:g.542736C>T",
        "LRG_488:g.542736C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg395Cys",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg395Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1183C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1183C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg395Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg395Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "C",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg395Cys",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg395Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Arg18Cys",
        "hgvsWellDefined": "ENSP00000482733.1:p.Arg18Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679234",
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg395Cys",
        "hgvsWellDefined": "NP_004295.2:p.Arg395Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.2113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679234",
      "coordinates": [
        {
          "allele": "T",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg395Cys",
        "hgvsWellDefined": "NP_004295.2:p.Arg395Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1183C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1183C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg395Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg395Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}