{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346467083",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.3076A>G (p.Thr1026Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=629843[alleleid]",
        "alleleId": 629843,
        "preferredName": "NM_004304.5(ALK):c.3076A>G (p.Thr1026Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/657588",
        "RCV": [
          "RCV000814225",
          "RCV002319588"
        ],
        "variationId": 657588
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29448423T>C?assembly=hg19",
        "id": "chr2:g.29448423T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29225557T>C?assembly=hg38",
        "id": "chr2:g.29225557T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781515382",
        "rs": 781515382
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29448423-T-C?dataset=gnomad_r2_1",
        "id": "2-29448423-T-C",
        "variant": "2:29448423 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29225557-T-C?dataset=gnomad_r3",
        "id": "2-29225557-T-C",
        "variant": "2:29225557 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29225557-T-C?dataset=gnomad_r4",
        "id": "2-29225557-T-C",
        "variant": "2:29225557 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29225557,
          "referenceAllele": "T",
          "start": 29225556
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29225557T>C",
        "CM000664.2:g.29225557T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29448423,
          "referenceAllele": "T",
          "start": 29448422
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29448423T>C",
        "CM000664.1:g.29448423T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29301927,
          "referenceAllele": "T",
          "start": 29301926
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29301927T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701010,
          "referenceAllele": "A",
          "start": 701009
        }
      ],
      "hgvs": [
        "NG_009445.1:g.701010A>G",
        "LRG_488:g.701010A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4003,
          "referenceAllele": "A",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.3076A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Thr1026Ala",
        "hgvsWellDefined": "ENSP00000373700.3:p.Thr1026Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.3076A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.3076A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Thr1026Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Thr1026Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "A",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.6:c.242A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3983,
          "referenceAllele": "A",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.3076A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Thr1026Ala",
        "hgvsWellDefined": "ENSP00000373700.3:p.Thr1026Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2412,
          "referenceAllele": "A",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.1945A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Thr649Ala",
        "hgvsWellDefined": "ENSP00000482733.1:p.Thr649Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011432",
      "coordinates": [
        {
          "allele": "G",
          "end": 4028,
          "referenceAllele": "A",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.3076A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Thr1026Ala",
        "hgvsWellDefined": "NP_004295.2:p.Thr1026Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.229A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:p.Thr77Ala",
        "hgvsWellDefined": "XP_024308546.1:p.Thr77Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3932,
          "referenceAllele": "A",
          "start": 3931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.3932A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011432",
      "coordinates": [
        {
          "allele": "G",
          "end": 4003,
          "referenceAllele": "A",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.3076A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Thr1026Ala",
        "hgvsWellDefined": "NP_004295.2:p.Thr1026Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.3076A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.3076A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Thr1026Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Thr1026Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}