{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA027724",
  "communityStandardTitle": [
    "NM_001005242.3(PKP2):c.136C>A (p.Arg46Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=617911[alleleid]",
        "alleleId": 617911,
        "preferredName": "NM_001005242.3(PKP2):c.136C>A (p.Arg46Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/629470",
        "RCV": [
          "RCV000774177"
        ],
        "variationId": 629470
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-33049530-G-T",
        "id": "12-33049530-G-T",
        "variant": "12:33049530 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.33049530G>T?assembly=hg19",
        "id": "chr12:g.33049530G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32896596G>T?assembly=hg38",
        "id": "chr12:g.32896596G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764116301",
        "rs": 764116301
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-33049530-G-T?dataset=gnomad_r2_1",
        "id": "12-33049530-G-T",
        "variant": "12:33049530 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32896596-G-T?dataset=gnomad_r4",
        "id": "12-32896596-G-T",
        "variant": "12:32896596 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 32896596,
          "referenceAllele": "G",
          "start": 32896595
        }
      ],
      "hgvs": [
        "NC_000012.12:g.32896596G>T",
        "CM000674.2:g.32896596G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 33049530,
          "referenceAllele": "G",
          "start": 33049529
        }
      ],
      "hgvs": [
        "NC_000012.11:g.33049530G>T",
        "CM000674.1:g.33049530G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 32940797,
          "referenceAllele": "G",
          "start": 32940796
        }
      ],
      "hgvs": [
        "NC_000012.10:g.32940797G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5251,
          "referenceAllele": "C",
          "start": 5250
        }
      ],
      "hgvs": [
        "NG_009000.1:g.5251C>A",
        "LRG_398:g.5251C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000546741.3:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481383.2:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000481383.2:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700559.2:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515065.2:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000515065.2:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700563.2:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515066.2:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000515066.2:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90,
          "referenceAllele": "C",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700563.1:c.90C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "referenceAllele": "C",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700564.1:n.140C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000070846.11:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000070846.6:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000070846.6:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000340811.9:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342800.5:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000342800.5:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340811.9:c.136C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001005242.3:c.136C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342800.5:p.Arg46Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001005242.2:p.Arg46Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000070846.10:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000070846.6:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000070846.6:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000340811.8:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342800.4:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000342800.4:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6,
          "referenceAllele": "C",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000546741.2:c.6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "referenceAllele": "C",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000613243.1:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478295.1:p.Arg46Ser",
        "hgvsWellDefined": "ENSP00000478295.1:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825258995",
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.2:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.Arg46Ser",
        "hgvsWellDefined": "NP_001005242.2:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913194446",
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.3:c.136C>A",
        "LRG_398t1:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.Arg46Ser",
        "hgvsWellDefined": "NP_004563.2:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825258995",
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.3:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.Arg46Ser",
        "hgvsWellDefined": "NP_001005242.2:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340811.9:c.136C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001005242.3:c.136C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342800.5:p.Arg46Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001005242.2:p.Arg46Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA913194446",
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.4:c.136C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.Arg46Ser",
        "hgvsWellDefined": "NP_004563.2:p.Arg46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727517"
    }
  ],
  "type": "nucleotide"
}