{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2284463215",
  "communityStandardTitle": [
    "NM_001378183.1(PIEZO2):c.2404A= (p.Ile802=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777076",
        "rs": 587777076
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 10784872,
          "referenceAllele": "T",
          "start": 10784871
        }
      ],
      "hgvs": [
        "NC_000018.10:g.10784872T=",
        "CM000680.2:g.10784872T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 10784870,
          "referenceAllele": "T",
          "start": 10784869
        }
      ],
      "hgvs": [
        "NC_000018.9:g.10784870T=",
        "CM000680.1:g.10784870T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 10774870,
          "referenceAllele": "T",
          "start": 10774869
        }
      ],
      "hgvs": [
        "NC_000018.8:g.10774870T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368891,
          "referenceAllele": "A",
          "start": 368890
        }
      ],
      "hgvs": [
        "NG_034005.1:g.368891A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "referenceAllele": "A",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.7:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.4:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "referenceAllele": "A",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000686869.1:n.2461A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3385,
          "referenceAllele": "A",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000674853.1:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501957.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.2404A="
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.2404A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:p.Ile802="
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:p.Ile802="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2404,
          "referenceAllele": "A",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000302079.10:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303316.6:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2578,
          "referenceAllele": "A",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.6:c.2251A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.3:p.Ile751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2404,
          "referenceAllele": "A",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000503781.7:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421377.3:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2404,
          "referenceAllele": "A",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000580640.5:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463094.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2404,
          "referenceAllele": "A",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000582913.5:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462115.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000583325.1:c.391A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462560.1:p.Ile131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085489034",
      "coordinates": [
        {
          "allele": "A",
          "end": 2578,
          "referenceAllele": "A",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.3:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "referenceAllele": "A",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.1:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "referenceAllele": "A",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.1:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "referenceAllele": "A",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.1:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "referenceAllele": "A",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.1:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "referenceAllele": "A",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525727.1:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524029.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3401,
          "referenceAllele": "A",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.3:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3401,
          "referenceAllele": "A",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.3:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3401,
          "referenceAllele": "A",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.3:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3401,
          "referenceAllele": "A",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.3:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3362,
          "referenceAllele": "A",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_017025918.2:c.2365A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881407.1:p.Ile789="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3401,
          "referenceAllele": "A",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XR_001753259.2:n.3401A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3385,
          "referenceAllele": "A",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_001378183.1:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365112.1:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721542",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.2404A="
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.2404A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:p.Ile802="
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:p.Ile802="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085489034",
      "coordinates": [
        {
          "allele": "A",
          "end": 3385,
          "referenceAllele": "A",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.4:c.2404A="
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:p.Ile802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728563"
    }
  ],
  "type": "nucleotide"
}