{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA425436254",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.2781G>T (p.Gly927=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=691139[alleleid]",
        "alleleId": 691139,
        "preferredName": "NM_004304.5(ALK):c.2781G>T (p.Gly927=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/703707",
        "RCV": [
          "RCV001506598",
          "RCV003169183"
        ],
        "variationId": 703707
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29451784C>A?assembly=hg19",
        "id": "chr2:g.29451784C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29228918C>A?assembly=hg38",
        "id": "chr2:g.29228918C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1264537420",
        "rs": 1264537420
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29451784-C-A?dataset=gnomad_r2_1",
        "id": "2-29451784-C-A",
        "variant": "2:29451784 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29228918-C-A?dataset=gnomad_r3",
        "id": "2-29228918-C-A",
        "variant": "2:29228918 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29228918-C-A?dataset=gnomad_r4",
        "id": "2-29228918-C-A",
        "variant": "2:29228918 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29228918,
          "referenceAllele": "C",
          "start": 29228917
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29228918C>A",
        "CM000664.2:g.29228918C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29451784,
          "referenceAllele": "C",
          "start": 29451783
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29451784C>A",
        "CM000664.1:g.29451784C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29305288,
          "referenceAllele": "C",
          "start": 29305287
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29305288C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697649,
          "referenceAllele": "G",
          "start": 697648
        }
      ],
      "hgvs": [
        "NG_009445.1:g.697649G>T",
        "LRG_488:g.697649G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3708,
          "referenceAllele": "G",
          "start": 3707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.2781G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Gly927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.2781G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.2781G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Gly927="
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Gly927="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3688,
          "referenceAllele": "G",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.2781G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Gly927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "G",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.1650G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Gly550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829521622",
      "coordinates": [
        {
          "allele": "T",
          "end": 3733,
          "referenceAllele": "G",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.2781G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Gly927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 40,
          "referenceAllele": "G",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.-33+40G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:n.-33+40G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3671,
          "endIntronDirection": "+",
          "endIntronOffset": 40,
          "referenceAllele": "G",
          "start": 3671,
          "startIntronDirection": "+",
          "startIntronOffset": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.3671+40G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829521622",
      "coordinates": [
        {
          "allele": "T",
          "end": 3708,
          "referenceAllele": "G",
          "start": 3707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.2781G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Gly927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.2781G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.2781G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Gly927="
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Gly927="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}