{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345426847",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=557208[alleleid]",
        "alleleId": 557208,
        "preferredName": "NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566084",
        "RCV": [
          "RCV002532206"
        ],
        "variationId": 566084
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237982488A>G?assembly=hg19",
        "id": "chr1:g.237982488A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237819188A>G?assembly=hg38",
        "id": "chr1:g.237819188A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1558481148",
        "rs": 1558481148
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237819188,
          "referenceAllele": "A",
          "start": 237819187
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237819188A>G",
        "CM000663.2:g.237819188A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237982488,
          "referenceAllele": "A",
          "start": 237982487
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237982488A>G",
        "CM000663.1:g.237982488A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236049111,
          "referenceAllele": "A",
          "start": 236049110
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236049111A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 781787,
          "referenceAllele": "A",
          "start": 781786
        }
      ],
      "hgvs": [
        "NG_008799.2:g.781787A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 782005,
          "referenceAllele": "A",
          "start": 782004
        }
      ],
      "hgvs": [
        "NG_008799.3:g.782005A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14866,
          "referenceAllele": "A",
          "start": 14865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*5678A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*5678A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14906,
          "referenceAllele": "A",
          "start": 14905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.14568A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Ile4856Met",
        "hgvsWellDefined": "ENSP00000499653.3:p.Ile4856Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14945,
          "referenceAllele": "A",
          "start": 14944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.14607A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Ile4869Met",
        "hgvsWellDefined": "ENSP00000499787.2:p.Ile4869Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6757,
          "referenceAllele": "A",
          "start": 6756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.6757A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14924,
          "referenceAllele": "A",
          "start": 14923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.14586A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ile4862Met",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ile4862Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14586A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14586A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ile4862Met"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ile4862Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14535,
          "referenceAllele": "A",
          "start": 14534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.14535A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Ile4845Met",
        "hgvsWellDefined": "ENSP00000353174.7:p.Ile4845Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14903,
          "referenceAllele": "A",
          "start": 14902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.14586A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ile4862Met",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ile4862Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000608590.5:n.1097A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891857723",
      "coordinates": [
        {
          "allele": "G",
          "end": 14706,
          "referenceAllele": "A",
          "start": 14705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.14586A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ile4862Met",
        "hgvsWellDefined": "NP_001026.2:p.Ile4862Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14881,
          "referenceAllele": "A",
          "start": 14880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.14640A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ile4880Met",
        "hgvsWellDefined": "XP_006711865.1:p.Ile4880Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14878,
          "referenceAllele": "A",
          "start": 14877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.14637A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ile4879Met",
        "hgvsWellDefined": "XP_006711866.1:p.Ile4879Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14856,
          "referenceAllele": "A",
          "start": 14855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.14616A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ile4872Met",
        "hgvsWellDefined": "XP_006711867.1:p.Ile4872Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14846,
          "referenceAllele": "A",
          "start": 14845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.14610A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ile4870Met",
        "hgvsWellDefined": "XP_006711868.1:p.Ile4870Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14845,
          "referenceAllele": "A",
          "start": 14844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.14604A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ile4868Met",
        "hgvsWellDefined": "XP_006711869.1:p.Ile4868Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14821,
          "referenceAllele": "A",
          "start": 14820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.14580A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ile4860Met",
        "hgvsWellDefined": "XP_006711870.1:p.Ile4860Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14642,
          "referenceAllele": "A",
          "start": 14641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.14403A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ile4801Met",
        "hgvsWellDefined": "XP_006711871.1:p.Ile4801Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14787,
          "referenceAllele": "A",
          "start": 14786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.14547A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ile4849Met",
        "hgvsWellDefined": "XP_006711873.1:p.Ile4849Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14954,
          "referenceAllele": "A",
          "start": 14953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.14640A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ile4880Met",
        "hgvsWellDefined": "XP_006711865.1:p.Ile4880Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14951,
          "referenceAllele": "A",
          "start": 14950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.14637A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ile4879Met",
        "hgvsWellDefined": "XP_006711866.1:p.Ile4879Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14930,
          "referenceAllele": "A",
          "start": 14929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.14616A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ile4872Met",
        "hgvsWellDefined": "XP_006711867.1:p.Ile4872Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14924,
          "referenceAllele": "A",
          "start": 14923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.14610A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ile4870Met",
        "hgvsWellDefined": "XP_006711868.1:p.Ile4870Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14918,
          "referenceAllele": "A",
          "start": 14917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.14604A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ile4868Met",
        "hgvsWellDefined": "XP_006711869.1:p.Ile4868Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14894,
          "referenceAllele": "A",
          "start": 14893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.14580A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ile4860Met",
        "hgvsWellDefined": "XP_006711870.1:p.Ile4860Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14717,
          "referenceAllele": "A",
          "start": 14716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.14403A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ile4801Met",
        "hgvsWellDefined": "XP_006711871.1:p.Ile4801Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14861,
          "referenceAllele": "A",
          "start": 14860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.14547A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ile4849Met",
        "hgvsWellDefined": "XP_006711873.1:p.Ile4849Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14933,
          "referenceAllele": "A",
          "start": 14932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.14619A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Ile4873Met",
        "hgvsWellDefined": "XP_016857517.1:p.Ile4873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891857723",
      "coordinates": [
        {
          "allele": "G",
          "end": 14924,
          "referenceAllele": "A",
          "start": 14923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.14586A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ile4862Met",
        "hgvsWellDefined": "NP_001026.2:p.Ile4862Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14586A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14586A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ile4862Met"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ile4862Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}