{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5105853",
  "communityStandardTitle": [
    "NM_006180.6(NTRK2):c.1848C>A (p.Ile616=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5019069"
      },
      {
        "active": false,
        "id": "COSM5019070"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1261343[alleleid]",
        "alleleId": 1261343,
        "preferredName": "NM_006180.6(NTRK2):c.1848C>A (p.Ile616=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1268912",
        "RCV": [
          "RCV001680017"
        ],
        "variationId": 1268912
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-87563460-C-A",
        "id": "9-87563460-C-A",
        "variant": "9:87563460 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.87563460C>A?assembly=hg19",
        "id": "chr9:g.87563460C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.84948545C>A?assembly=hg38",
        "id": "chr9:g.84948545C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2289657",
        "rs": 2289657
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-87563460-C-A?dataset=gnomad_r2_1",
        "id": "9-87563460-C-A",
        "variant": "9:87563460 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-84948545-C-A?dataset=gnomad_r3",
        "id": "9-84948545-C-A",
        "variant": "9:84948545 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-84948545-C-A?dataset=gnomad_r4",
        "id": "9-84948545-C-A",
        "variant": "9:84948545 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 84948545,
          "referenceAllele": "C",
          "start": 84948544
        }
      ],
      "hgvs": [
        "NC_000009.12:g.84948545C>A",
        "CM000671.2:g.84948545C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 87563460,
          "referenceAllele": "C",
          "start": 87563459
        }
      ],
      "hgvs": [
        "NC_000009.11:g.87563460C>A",
        "CM000671.1:g.87563460C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 86753280,
          "referenceAllele": "C",
          "start": 86753279
        }
      ],
      "hgvs": [
        "NC_000009.10:g.86753280C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284995,
          "referenceAllele": "C",
          "start": 284994
        }
      ],
      "hgvs": [
        "NG_012201.2:g.284995C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002284"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000323115.11:c.1764C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314586.5:p.Ile588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2334,
          "referenceAllele": "C",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000685095.1:n.2334C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000685463.1:n.2465C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000686259.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509743.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "C",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000686324.1:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510134.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2878,
          "referenceAllele": "C",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000686332.1:n.2878C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3151,
          "referenceAllele": "C",
          "start": 3150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000686496.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510060.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000687386.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508723.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2733,
          "referenceAllele": "C",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000688333.1:n.2733C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000688978.1:n.519C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000689301.1:c.1332C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510766.1:p.Ile444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000690882.1:n.2465C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000691788.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509401.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2914,
          "referenceAllele": "C",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000692181.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510619.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000692473.1:c.1380C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509020.1:p.Ile460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000277120.8:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277120.3:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743451",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000277120.8:c.1848C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006180.6:c.1848C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000277120.3:p.Ile616="
          },
          "RefSeq": {
            "hgvs": "NP_006171.2:p.Ile616="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2332,
          "referenceAllele": "C",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000323115.10:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314586.4:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2407,
          "referenceAllele": "C",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000376213.6:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365386.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000277120.7:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277120.3:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2153,
          "referenceAllele": "C",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000323115.8:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314586.4:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2738,
          "referenceAllele": "C",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000376213.5:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365386.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "C",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "ENST00000376214.5:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365387.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825326531",
      "coordinates": [
        {
          "allele": "A",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_001018064.2:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018074.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829635994",
      "coordinates": [
        {
          "allele": "A",
          "end": 2879,
          "referenceAllele": "C",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_006180.4:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006171.2:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2626,
          "referenceAllele": "C",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_005252001.1:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252058.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2576,
          "referenceAllele": "C",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_005252003.1:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252060.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "referenceAllele": "C",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_005252004.1:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252061.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2578,
          "referenceAllele": "C",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_011518718.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517020.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "C",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_011518719.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517021.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2624,
          "referenceAllele": "C",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_005252001.3:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252058.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "referenceAllele": "C",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_005252003.3:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252060.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "referenceAllele": "C",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_005252004.2:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252061.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_011518718.3:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517020.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3212,
          "referenceAllele": "C",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_017014751.2:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870240.1:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "referenceAllele": "C",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_017014752.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870241.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3164,
          "referenceAllele": "C",
          "start": 3163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_017014753.2:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870242.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "XM_017014754.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870243.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825326531",
      "coordinates": [
        {
          "allele": "A",
          "end": 2361,
          "referenceAllele": "C",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_001018064.3:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018074.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828337922",
      "coordinates": [
        {
          "allele": "A",
          "end": 2645,
          "referenceAllele": "C",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_001369532.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356461.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828338355",
      "coordinates": [
        {
          "allele": "A",
          "end": 2436,
          "referenceAllele": "C",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_001369533.1:c.1800C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356462.1:p.Ile600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828338786",
      "coordinates": [
        {
          "allele": "A",
          "end": 2296,
          "referenceAllele": "C",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_001369534.1:c.1764C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356463.1:p.Ile588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828339124",
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_001369535.1:c.1332C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356464.1:p.Ile444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828339469",
      "coordinates": [
        {
          "allele": "A",
          "end": 1717,
          "referenceAllele": "C",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_001369536.1:c.1380C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356465.1:p.Ile460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829635994",
      "coordinates": [
        {
          "allele": "A",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_006180.5:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006171.2:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829635994",
      "coordinates": [
        {
          "allele": "A",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008032",
      "geneNCBI_id": 4915,
      "geneSymbol": "NTRK2",
      "hgvs": [
        "NM_006180.6:c.1848C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006171.2:p.Ile616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000277120.8:c.1848C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006180.6:c.1848C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000277120.3:p.Ile616="
          },
          "RefSeq": {
            "hgvs": "NP_006171.2:p.Ile616="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}