{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7452337",
  "communityStandardTitle": [
    "NM_001252024.2(TRPM1):c.2087+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21262[alleleid]",
        "alleleId": 21262,
        "preferredName": "NM_001252024.2(TRPM1):c.2087+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6223",
        "RCV": [
          "RCV000006601"
        ],
        "variationId": 6223
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-31334152-A-G",
        "id": "15-31334152-A-G",
        "variant": "15:31334152 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31334152A>G?assembly=hg19",
        "id": "chr15:g.31334152A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.31041949A>G?assembly=hg38",
        "id": "chr15:g.31041949A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766862238",
        "rs": 766862238
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31334152-A-G?dataset=gnomad_r2_1",
        "id": "15-31334152-A-G",
        "variant": "15:31334152 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-31041949-A-G?dataset=gnomad_r4",
        "id": "15-31041949-A-G",
        "variant": "15:31041949 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 31041949,
          "referenceAllele": "A",
          "start": 31041948
        }
      ],
      "hgvs": [
        "NC_000015.10:g.31041949A>G",
        "CM000677.2:g.31041949A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 31334152,
          "referenceAllele": "A",
          "start": 31334151
        }
      ],
      "hgvs": [
        "NC_000015.9:g.31334152A>G",
        "CM000677.1:g.31334152A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 29121444,
          "referenceAllele": "A",
          "start": 29121443
        }
      ],
      "hgvs": [
        "NC_000015.8:g.29121444A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64773,
          "referenceAllele": "T",
          "start": 64772
        }
      ],
      "hgvs": [
        "NG_016453.1:g.64773T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124325,
          "referenceAllele": "T",
          "start": 124324
        }
      ],
      "hgvs": [
        "NG_016453.2:g.124325T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2153,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000711434.1:c.2021+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518752.1:n.2021+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2153,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.7:c.2021+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:n.2021+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2339,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2339,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.6:c.2138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.2:n.2138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 13472,
          "referenceAllele": "T",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 13473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.6:c.545-13473T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.2:n.545-13473T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905904"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2239,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2239,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.11:c.2087+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.7:n.2087+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741786",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.2087+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.2087+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:n.2087+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:n.2087+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2235,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2235,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000256552.10:c.2087+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256552.6:n.2087+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2135,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2135,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000397795.6:c.2021+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380897.2:n.2021+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2452,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2452,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000542188.5:c.2138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437849.1:n.2138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2133,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2133,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558445.5:c.2021+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452946.1:n.2021+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1790,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000558768.5:c.1790+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453119.2:n.1790+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 13472,
          "referenceAllele": "T",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 13473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000559177.5:c.428-13473T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453477.1:n.428-13473T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374378"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1838,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1838,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "ENST00000560801.5:c.1838+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453644.2:n.1838+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2452,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2452,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.1:c.2138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:n.2138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2240,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2240,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.1:c.2087+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:n.2087+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2154,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2154,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.5:c.2021+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:n.2021+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2239,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2239,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252024.2:c.2087+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238953.1:n.2087+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256552.11:c.2087+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001252024.2:c.2087+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256552.7:n.2087+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001238953.1:n.2087+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2153,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_002420.6:c.2021+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002411.3:n.2021+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2339,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2339,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NM_001252020.2:c.2138+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238949.1:n.2138+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714610"
    }
  ],
  "type": "nucleotide"
}