{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA44642925",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.1757C>T (p.Ala586Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3580996",
        "active": true,
        "id": "COSM3580996"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=558045[alleleid]",
        "alleleId": 558045,
        "preferredName": "NM_004304.5(ALK):c.1757C>T (p.Ala586Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/570733",
        "RCV": [
          "RCV000691667"
        ],
        "variationId": 570733
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29519814G>A?assembly=hg19",
        "id": "chr2:g.29519814G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29296948G>A?assembly=hg38",
        "id": "chr2:g.29296948G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1046338903",
        "rs": 1046338903
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29519814-G-A?dataset=gnomad_r2_1",
        "id": "2-29519814-G-A",
        "variant": "2:29519814 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29296948-G-A?dataset=gnomad_r4",
        "id": "2-29296948-G-A",
        "variant": "2:29296948 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29296948,
          "referenceAllele": "G",
          "start": 29296947
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29296948G>A",
        "CM000664.2:g.29296948G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29519814,
          "referenceAllele": "G",
          "start": 29519813
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29519814G>A",
        "CM000664.1:g.29519814G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29373318,
          "referenceAllele": "G",
          "start": 29373317
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29373318G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629619,
          "referenceAllele": "C",
          "start": 629618
        }
      ],
      "hgvs": [
        "NG_009445.1:g.629619C>T",
        "LRG_488:g.629619C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2684,
          "referenceAllele": "C",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Ala586Val",
        "hgvsWellDefined": "ENSP00000373700.3:p.Ala586Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1757C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1757C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Ala586Val"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Ala586Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2664,
          "referenceAllele": "C",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Ala586Val",
        "hgvsWellDefined": "ENSP00000373700.3:p.Ala586Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000498037.1:n.312C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.626C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Ala209Val",
        "hgvsWellDefined": "ENSP00000482733.1:p.Ala209Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855254",
      "coordinates": [
        {
          "allele": "T",
          "end": 2709,
          "referenceAllele": "C",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Ala586Val",
        "hgvsWellDefined": "NP_004295.2:p.Ala586Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "referenceAllele": "C",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.2687C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855254",
      "coordinates": [
        {
          "allele": "T",
          "end": 2684,
          "referenceAllele": "C",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Ala586Val",
        "hgvsWellDefined": "NP_004295.2:p.Ala586Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1757C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1757C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Ala586Val"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Ala586Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}