{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16550557",
  "communityStandardTitle": [
    "NM_001378183.1(PIEZO2):c.2947-3329T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.10766425A>G?assembly=hg19",
        "id": "chr18:g.10766425A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.10766427A>G?assembly=hg38",
        "id": "chr18:g.10766427A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2865126",
        "rs": 2865126
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-10766425-A-G?dataset=gnomad_r2_1",
        "id": "18-10766425-A-G",
        "variant": "18:10766425 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-10766427-A-G?dataset=gnomad_r3",
        "id": "18-10766427-A-G",
        "variant": "18:10766427 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-10766427-A-G?dataset=gnomad_r4",
        "id": "18-10766427-A-G",
        "variant": "18:10766427 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 10766427,
          "referenceAllele": "A",
          "start": 10766426
        }
      ],
      "hgvs": [
        "NC_000018.10:g.10766427A>G",
        "CM000680.2:g.10766427A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 10766425,
          "referenceAllele": "A",
          "start": 10766424
        }
      ],
      "hgvs": [
        "NC_000018.9:g.10766425A>G",
        "CM000680.1:g.10766425A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 10756425,
          "referenceAllele": "A",
          "start": 10756424
        }
      ],
      "hgvs": [
        "NC_000018.8:g.10756425A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387336,
          "referenceAllele": "T",
          "start": 387335
        }
      ],
      "hgvs": [
        "NG_034005.1:g.387336T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3003,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3003,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.7:c.2947-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.4:n.2947-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3003,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3003,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000686869.1:n.3004-3329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3927,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3927,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000674853.1:c.2947-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501957.1:n.2947-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.2947-3329T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.2947-3329T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:n.2947-3329T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:n.2947-3329T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2871,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 2871,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000302079.10:c.2872-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303316.6:n.2872-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3049,
          "endIntronDirection": "-",
          "endIntronOffset": 3148,
          "referenceAllele": "T",
          "start": 3049,
          "startIntronDirection": "-",
          "startIntronOffset": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.6:c.2723-3149T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.3:n.2723-3149T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2871,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 2871,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000503781.7:c.2872-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421377.3:n.2872-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2946,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 2946,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000580640.5:c.2947-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463094.1:n.2947-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2913,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 2913,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000582913.5:c.2914-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462115.1:n.2914-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3045,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3045,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.3:c.2872-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:n.2872-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3115,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3115,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.1:c.3004-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:n.3004-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3058,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3058,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.1:c.2947-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:n.2947-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3025,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3025,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.1:c.2914-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:n.2914-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3115,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3115,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.1:c.3004-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:n.3004-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3115,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3115,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525727.1:c.3004-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524029.1:n.3004-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4000,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 4000,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.3:c.3004-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:n.3004-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3943,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3943,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.3:c.2947-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:n.2947-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3910,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3910,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.3:c.2914-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:n.2914-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4000,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 4000,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.3:c.3004-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:n.3004-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3961,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3961,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_017025918.2:c.2965-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881407.1:n.2965-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4000,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 4000,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XR_001753259.2:n.4001-3329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3927,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3927,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_001378183.1:c.2947-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365112.1:n.2947-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721542",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.2947-3329T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.2947-3329T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:n.2947-3329T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:n.2947-3329T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3852,
          "endIntronDirection": "-",
          "endIntronOffset": 3328,
          "referenceAllele": "T",
          "start": 3852,
          "startIntronDirection": "-",
          "startIntronOffset": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.4:c.2872-3329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:n.2872-3329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728563"
    }
  ],
  "type": "nucleotide"
}