{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2284409206",
  "communityStandardTitle": [
    "NM_001378183.1(PIEZO2):c.8396G= (p.Arg2799=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777450",
        "rs": 587777450
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 10671729,
          "referenceAllele": "C",
          "start": 10671728
        }
      ],
      "hgvs": [
        "NC_000018.10:g.10671729C=",
        "CM000680.2:g.10671729C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 10671726,
          "referenceAllele": "C",
          "start": 10671725
        }
      ],
      "hgvs": [
        "NC_000018.9:g.10671726C=",
        "CM000680.1:g.10671726C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 10661726,
          "referenceAllele": "C",
          "start": 10661725
        }
      ],
      "hgvs": [
        "NC_000018.8:g.10661726C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482034,
          "referenceAllele": "G",
          "start": 482033
        }
      ],
      "hgvs": [
        "NG_034005.1:g.482034G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8056,
          "referenceAllele": "G",
          "start": 8055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.7:c.*1498G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.4:n.*1498G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3139,
          "referenceAllele": "G",
          "start": 3138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000685517.1:n.3139G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2294,
          "referenceAllele": "G",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000691469.1:n.2294G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000693743.1:c.1592G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510331.1:n.1592G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9377,
          "referenceAllele": "G",
          "start": 9376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000674853.1:c.8396G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501957.1:p.Arg2799="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.8396G="
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.8396G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:p.Arg2799="
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:p.Arg2799="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7868,
          "referenceAllele": "G",
          "start": 7867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000302079.10:c.7868G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303316.6:p.Arg2623="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8237,
          "referenceAllele": "G",
          "start": 8236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.6:c.7910G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.3:p.Arg2637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8057,
          "referenceAllele": "G",
          "start": 8056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000503781.7:c.8057G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421377.3:p.Arg2686="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "referenceAllele": "G",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000538948.5:c.1928G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443129.1:p.Arg643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8132,
          "referenceAllele": "G",
          "start": 8131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000580640.5:c.8132G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463094.1:p.Arg2711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000581680.1:n.533G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8263,
          "referenceAllele": "G",
          "start": 8262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000582913.5:c.8263G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462115.1:n.8263G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 58,
          "endIntronDirection": "+",
          "endIntronOffset": 961,
          "referenceAllele": "G",
          "start": 58,
          "startIntronDirection": "+",
          "startIntronOffset": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000582937.1:c.58+961G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462187.1:n.58+961G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085489100",
      "coordinates": [
        {
          "allele": "G",
          "end": 8231,
          "referenceAllele": "G",
          "start": 8230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.3:c.8057G="
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:p.Arg2686="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8301,
          "referenceAllele": "G",
          "start": 8300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.1:c.8189G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:p.Arg2730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8244,
          "referenceAllele": "G",
          "start": 8243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.1:c.8132G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:p.Arg2711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8211,
          "referenceAllele": "G",
          "start": 8210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.1:c.8099G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:p.Arg2700="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8118,
          "referenceAllele": "G",
          "start": 8117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.1:c.8006G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:p.Arg2669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9186,
          "referenceAllele": "G",
          "start": 9185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.3:c.8189G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:p.Arg2730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9129,
          "referenceAllele": "G",
          "start": 9128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.3:c.8132G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:p.Arg2711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9096,
          "referenceAllele": "G",
          "start": 9095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.3:c.8099G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:p.Arg2700="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9003,
          "referenceAllele": "G",
          "start": 9002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.3:c.8006G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:p.Arg2669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9147,
          "referenceAllele": "G",
          "start": 9146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_017025918.2:c.8150G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881407.1:p.Arg2717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9377,
          "referenceAllele": "G",
          "start": 9376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_001378183.1:c.8396G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365112.1:p.Arg2799="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721542",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.8396G="
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.8396G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:p.Arg2799="
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:p.Arg2799="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085489100",
      "coordinates": [
        {
          "allele": "G",
          "end": 9038,
          "referenceAllele": "G",
          "start": 9037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.4:c.8057G="
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:p.Arg2686="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728563"
    }
  ],
  "type": "nucleotide"
}