{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA087950",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=906992[alleleid]",
        "alleleId": 906992,
        "preferredName": "NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/926684",
        "RCV": [
          "RCV001189456",
          "RCV003638775",
          "RCV004010359"
        ],
        "variationId": 926684
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237870406-G-A",
        "id": "1-237870406-G-A",
        "variant": "1:237870406 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237870406G>A?assembly=hg19",
        "id": "chr1:g.237870406G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237707106G>A?assembly=hg38",
        "id": "chr1:g.237707106G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771846177",
        "rs": 771846177
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237870406-G-A?dataset=gnomad_r2_1",
        "id": "1-237870406-G-A",
        "variant": "1:237870406 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237707106-G-A?dataset=gnomad_r4",
        "id": "1-237707106-G-A",
        "variant": "1:237707106 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237707106,
          "referenceAllele": "G",
          "start": 237707105
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237707106G>A",
        "CM000663.2:g.237707106G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237870406,
          "referenceAllele": "G",
          "start": 237870405
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237870406G>A",
        "CM000663.1:g.237870406G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235937029,
          "referenceAllele": "G",
          "start": 235937028
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235937029G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669705,
          "referenceAllele": "G",
          "start": 669704
        }
      ],
      "hgvs": [
        "NG_008799.2:g.669705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669923,
          "referenceAllele": "G",
          "start": 669922
        }
      ],
      "hgvs": [
        "NG_008799.3:g.669923G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9961,
          "referenceAllele": "G",
          "start": 9960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*773G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*773G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10076,
          "referenceAllele": "G",
          "start": 10075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Met3246Ile",
        "hgvsWellDefined": "ENSP00000499653.3:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10076,
          "referenceAllele": "G",
          "start": 10075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Met3246Ile",
        "hgvsWellDefined": "ENSP00000499787.2:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.1927G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10076,
          "referenceAllele": "G",
          "start": 10075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met3246Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.9738G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.9738G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met3246Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met3246Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.1927G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9690,
          "referenceAllele": "G",
          "start": 9689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.9690G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Met3230Ile",
        "hgvsWellDefined": "ENSP00000353174.7:p.Met3230Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10055,
          "referenceAllele": "G",
          "start": 10054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met3246Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.876G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139676474",
      "coordinates": [
        {
          "allele": "A",
          "end": 9858,
          "referenceAllele": "G",
          "start": 9857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met3246Ile",
        "hgvsWellDefined": "NP_001026.2:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10009,
          "referenceAllele": "G",
          "start": 10008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10006,
          "referenceAllele": "G",
          "start": 10005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.9765G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met3255Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Met3255Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10008,
          "referenceAllele": "G",
          "start": 10007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9974,
          "referenceAllele": "G",
          "start": 9973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met3246Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10009,
          "referenceAllele": "G",
          "start": 10008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10009,
          "referenceAllele": "G",
          "start": 10008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9770,
          "referenceAllele": "G",
          "start": 9769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.9531G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met3177Ile",
        "hgvsWellDefined": "XP_006711871.1:p.Met3177Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9975,
          "referenceAllele": "G",
          "start": 9974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.9735G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met3245Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Met3245Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10082,
          "referenceAllele": "G",
          "start": 10081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10079,
          "referenceAllele": "G",
          "start": 10078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.9765G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met3255Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Met3255Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10082,
          "referenceAllele": "G",
          "start": 10081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10052,
          "referenceAllele": "G",
          "start": 10051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met3246Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10082,
          "referenceAllele": "G",
          "start": 10081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10082,
          "referenceAllele": "G",
          "start": 10081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.9768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met3256Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Met3256Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9845,
          "referenceAllele": "G",
          "start": 9844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.9531G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met3177Ile",
        "hgvsWellDefined": "XP_006711871.1:p.Met3177Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10049,
          "referenceAllele": "G",
          "start": 10048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.9735G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met3245Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Met3245Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10061,
          "referenceAllele": "G",
          "start": 10060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.9747G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Met3249Ile",
        "hgvsWellDefined": "XP_016857517.1:p.Met3249Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139676474",
      "coordinates": [
        {
          "allele": "A",
          "end": 10076,
          "referenceAllele": "G",
          "start": 10075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met3246Ile",
        "hgvsWellDefined": "NP_001026.2:p.Met3246Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.9738G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.9738G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met3246Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met3246Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}