{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1594726",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.1184G>A (p.Arg395His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1172867",
        "active": true,
        "id": "COSM1172867"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450796[alleleid]",
        "alleleId": 450796,
        "preferredName": "NM_004304.5(ALK):c.1184G>A (p.Arg395His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/470740",
        "RCV": [
          "RCV000560261",
          "RCV002258962",
          "RCV003325492"
        ],
        "variationId": 470740
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-29606696-C-T",
        "id": "2-29606696-C-T",
        "variant": "2:29606696 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29606696C>T?assembly=hg19",
        "id": "chr2:g.29606696C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29383830C>T?assembly=hg38",
        "id": "chr2:g.29383830C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769910087",
        "rs": 769910087
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29606696-C-T?dataset=gnomad_r2_1",
        "id": "2-29606696-C-T",
        "variant": "2:29606696 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29383830-C-T?dataset=gnomad_r3",
        "id": "2-29383830-C-T",
        "variant": "2:29383830 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29383830-C-T?dataset=gnomad_r4",
        "id": "2-29383830-C-T",
        "variant": "2:29383830 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29383830,
          "referenceAllele": "C",
          "start": 29383829
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29383830C>T",
        "CM000664.2:g.29383830C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29606696,
          "referenceAllele": "C",
          "start": 29606695
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29606696C>T",
        "CM000664.1:g.29606696C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 29460200,
          "referenceAllele": "C",
          "start": 29460199
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29460200C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 542737,
          "referenceAllele": "G",
          "start": 542736
        }
      ],
      "hgvs": [
        "NG_009445.1:g.542737G>A",
        "LRG_488:g.542737G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "referenceAllele": "G",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg395His",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg395His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1184G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1184G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg395His"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg395His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2091,
          "referenceAllele": "G",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Arg395His",
        "hgvsWellDefined": "ENSP00000373700.3:p.Arg395His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.53G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Arg18His",
        "hgvsWellDefined": "ENSP00000482733.1:p.Arg18His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679235",
      "coordinates": [
        {
          "allele": "A",
          "end": 2136,
          "referenceAllele": "G",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg395His",
        "hgvsWellDefined": "NP_004295.2:p.Arg395His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.2114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679235",
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "referenceAllele": "G",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.1184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg395His",
        "hgvsWellDefined": "NP_004295.2:p.Arg395His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.1184G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.1184G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg395His"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg395His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}