{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA027651",
  "communityStandardTitle": [
    "NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=911994[alleleid]",
        "alleleId": 911994,
        "preferredName": "NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/924782",
        "RCV": [
          "RCV001186368",
          "RCV002379719",
          "RCV002560885",
          "RCV004008595"
        ],
        "variationId": 924782
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-33003756-C-T",
        "id": "12-33003756-C-T",
        "variant": "12:33003756 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.33003756C>T?assembly=hg19",
        "id": "chr12:g.33003756C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32850822C>T?assembly=hg38",
        "id": "chr12:g.32850822C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753912985",
        "rs": 753912985
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-33003756-C-T?dataset=gnomad_r2_1",
        "id": "12-33003756-C-T",
        "variant": "12:33003756 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32850822-C-T?dataset=gnomad_r4",
        "id": "12-32850822-C-T",
        "variant": "12:32850822 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 32850822,
          "referenceAllele": "C",
          "start": 32850821
        }
      ],
      "hgvs": [
        "NC_000012.12:g.32850822C>T",
        "CM000674.2:g.32850822C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 33003756,
          "referenceAllele": "C",
          "start": 33003755
        }
      ],
      "hgvs": [
        "NC_000012.11:g.33003756C>T",
        "CM000674.1:g.33003756C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 32895023,
          "referenceAllele": "C",
          "start": 32895022
        }
      ],
      "hgvs": [
        "NC_000012.10:g.32895023C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51025,
          "referenceAllele": "G",
          "start": 51024
        }
      ],
      "hgvs": [
        "NG_009000.1:g.51025G>A",
        "LRG_398:g.51025G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700559.2:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515065.2:p.Arg441Gln",
        "hgvsWellDefined": "ENSP00000515065.2:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700563.2:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515066.2:p.Arg441Gln",
        "hgvsWellDefined": "ENSP00000515066.2:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700559.1:c.537G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700560.1:n.537G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700561.1:n.663G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700563.1:c.1276G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700564.1:n.1326G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700565.1:n.1175G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000070846.11:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000070846.6:p.Arg441Gln",
        "hgvsWellDefined": "ENSP00000070846.6:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000340811.9:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342800.5:p.Arg441Gln",
        "hgvsWellDefined": "ENSP00000342800.5:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340811.9:c.1322G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001005242.3:c.1322G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342800.5:p.Arg441Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001005242.2:p.Arg441Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000070846.10:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000070846.6:p.Arg441Gln",
        "hgvsWellDefined": "ENSP00000070846.6:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1431,
          "referenceAllele": "G",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000340811.8:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342800.4:p.Arg441Gln",
        "hgvsWellDefined": "ENSP00000342800.4:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000613243.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478295.1:p.Arg441Gln",
        "hgvsWellDefined": "ENSP00000478295.1:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825260072",
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "referenceAllele": "G",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.2:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.Arg441Gln",
        "hgvsWellDefined": "NP_001005242.2:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720419",
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "referenceAllele": "G",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.3:c.1322G>A",
        "LRG_398t1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.Arg441Gln",
        "hgvsWellDefined": "NP_004563.2:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825260072",
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.3:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.Arg441Gln",
        "hgvsWellDefined": "NP_001005242.2:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340811.9:c.1322G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001005242.3:c.1322G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342800.5:p.Arg441Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001005242.2:p.Arg441Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720419",
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.4:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.Arg441Gln",
        "hgvsWellDefined": "NP_004563.2:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727517"
    }
  ],
  "type": "nucleotide"
}