{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007324",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52887[alleleid]",
        "alleleId": 52887,
        "preferredName": "NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43718",
        "RCV": [
          "RCV000036670",
          "RCV000378772",
          "RCV000766732",
          "RCV001093785",
          "RCV001182008",
          "RCV002482980",
          "RCV004018804",
          "RCV003996246"
        ],
        "variationId": 43718
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237947059-T-A",
        "id": "1-237947059-T-A",
        "variant": "1:237947059 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237947059T>A?assembly=hg19",
        "id": "chr1:g.237947059T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237783759T>A?assembly=hg38",
        "id": "chr1:g.237783759T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375021201",
        "rs": 375021201
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237947059-T-A?dataset=gnomad_r2_1",
        "id": "1-237947059-T-A",
        "variant": "1:237947059 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237783759-T-A?dataset=gnomad_r3",
        "id": "1-237783759-T-A",
        "variant": "1:237783759 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237783759-T-A?dataset=gnomad_r4",
        "id": "1-237783759-T-A",
        "variant": "1:237783759 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237783759,
          "referenceAllele": "T",
          "start": 237783758
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237783759T>A",
        "CM000663.2:g.237783759T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237947059,
          "referenceAllele": "T",
          "start": 237947058
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237947059T>A",
        "CM000663.1:g.237947059T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 236013682,
          "referenceAllele": "T",
          "start": 236013681
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236013682T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746358,
          "referenceAllele": "T",
          "start": 746357
        }
      ],
      "hgvs": [
        "NG_008799.2:g.746358T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746576,
          "referenceAllele": "T",
          "start": 746575
        }
      ],
      "hgvs": [
        "NG_008799.3:g.746576T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12327,
          "referenceAllele": "T",
          "start": 12326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*3139T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*3139T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12373,
          "referenceAllele": "T",
          "start": 12372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.12035T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Phe4012Tyr",
        "hgvsWellDefined": "ENSP00000499653.3:p.Phe4012Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12406,
          "referenceAllele": "T",
          "start": 12405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.12068T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Phe4023Tyr",
        "hgvsWellDefined": "ENSP00000499787.2:p.Phe4023Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4224,
          "referenceAllele": "T",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.4224T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12385,
          "referenceAllele": "T",
          "start": 12384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.12047T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Phe4016Tyr",
        "hgvsWellDefined": "ENSP00000355533.2:p.Phe4016Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12047T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12047T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Phe4016Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Phe4016Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4224,
          "referenceAllele": "T",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.4224T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2100,
          "referenceAllele": "T",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.2100T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11999,
          "referenceAllele": "T",
          "start": 11998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.11999T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Phe4000Tyr",
        "hgvsWellDefined": "ENSP00000353174.7:p.Phe4000Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12364,
          "referenceAllele": "T",
          "start": 12363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.12047T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Phe4016Tyr",
        "hgvsWellDefined": "ENSP00000355533.2:p.Phe4016Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3242,
          "referenceAllele": "T",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.3242T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132929",
      "coordinates": [
        {
          "allele": "A",
          "end": 12167,
          "referenceAllele": "T",
          "start": 12166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.12047T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Phe4016Tyr",
        "hgvsWellDefined": "NP_001026.2:p.Phe4016Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12342,
          "referenceAllele": "T",
          "start": 12341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.12101T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Phe4034Tyr",
        "hgvsWellDefined": "XP_006711865.1:p.Phe4034Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12339,
          "referenceAllele": "T",
          "start": 12338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.12098T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Phe4033Tyr",
        "hgvsWellDefined": "XP_006711866.1:p.Phe4033Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12317,
          "referenceAllele": "T",
          "start": 12316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.12077T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Phe4026Tyr",
        "hgvsWellDefined": "XP_006711867.1:p.Phe4026Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12307,
          "referenceAllele": "T",
          "start": 12306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.12071T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Phe4024Tyr",
        "hgvsWellDefined": "XP_006711868.1:p.Phe4024Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12306,
          "referenceAllele": "T",
          "start": 12305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.12065T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Phe4022Tyr",
        "hgvsWellDefined": "XP_006711869.1:p.Phe4022Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12282,
          "referenceAllele": "T",
          "start": 12281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.12041T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Phe4014Tyr",
        "hgvsWellDefined": "XP_006711870.1:p.Phe4014Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12103,
          "referenceAllele": "T",
          "start": 12102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.11864T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Phe3955Tyr",
        "hgvsWellDefined": "XP_006711871.1:p.Phe3955Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12248,
          "referenceAllele": "T",
          "start": 12247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.12008T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Phe4003Tyr",
        "hgvsWellDefined": "XP_006711873.1:p.Phe4003Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12415,
          "referenceAllele": "T",
          "start": 12414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.12101T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Phe4034Tyr",
        "hgvsWellDefined": "XP_006711865.1:p.Phe4034Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12412,
          "referenceAllele": "T",
          "start": 12411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.12098T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Phe4033Tyr",
        "hgvsWellDefined": "XP_006711866.1:p.Phe4033Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12391,
          "referenceAllele": "T",
          "start": 12390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.12077T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Phe4026Tyr",
        "hgvsWellDefined": "XP_006711867.1:p.Phe4026Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12385,
          "referenceAllele": "T",
          "start": 12384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.12071T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Phe4024Tyr",
        "hgvsWellDefined": "XP_006711868.1:p.Phe4024Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12379,
          "referenceAllele": "T",
          "start": 12378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.12065T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Phe4022Tyr",
        "hgvsWellDefined": "XP_006711869.1:p.Phe4022Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12355,
          "referenceAllele": "T",
          "start": 12354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.12041T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Phe4014Tyr",
        "hgvsWellDefined": "XP_006711870.1:p.Phe4014Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12178,
          "referenceAllele": "T",
          "start": 12177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.11864T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Phe3955Tyr",
        "hgvsWellDefined": "XP_006711871.1:p.Phe3955Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12322,
          "referenceAllele": "T",
          "start": 12321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.12008T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Phe4003Tyr",
        "hgvsWellDefined": "XP_006711873.1:p.Phe4003Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12394,
          "referenceAllele": "T",
          "start": 12393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.12080T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Phe4027Tyr",
        "hgvsWellDefined": "XP_016857517.1:p.Phe4027Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132929",
      "coordinates": [
        {
          "allele": "A",
          "end": 12385,
          "referenceAllele": "T",
          "start": 12384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.12047T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Phe4016Tyr",
        "hgvsWellDefined": "NP_001026.2:p.Phe4016Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12047T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12047T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Phe4016Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Phe4016Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}