{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752432041",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.2453C= (p.Ser818=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912510",
        "rs": 121912510
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150948995,
          "referenceAllele": "G",
          "start": 150948994
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150948995G=",
        "CM000669.2:g.150948995G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150646083,
          "referenceAllele": "G",
          "start": 150646082
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150646083G=",
        "CM000669.1:g.150646083G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150277016,
          "referenceAllele": "G",
          "start": 150277015
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150277016G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33932,
          "referenceAllele": "C",
          "start": 33931
        }
      ],
      "hgvs": [
        "NG_008916.1:g.33932C=",
        "LRG_288:g.33932C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3286,
          "referenceAllele": "C",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.3286C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.2453C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Ser818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.2453C="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.2453C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Ser818="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Ser818="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.1433C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Ser478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2855,
          "referenceAllele": "C",
          "start": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.2453C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Ser818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.1433C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Ser478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825099198",
      "coordinates": [
        {
          "allele": "C",
          "end": 2854,
          "referenceAllele": "C",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.2453C=",
        "LRG_288t1:c.2453C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Ser818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830340093",
      "coordinates": [
        {
          "allele": "C",
          "end": 1759,
          "referenceAllele": "C",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.1433C=",
        "LRG_288t3:c.1433C="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Ser478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.2153C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Ser718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2841,
          "referenceAllele": "C",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.1:c.2453C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Ser818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2265,
          "referenceAllele": "C",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.2153C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Ser718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2527,
          "referenceAllele": "C",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.3:c.2453C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Ser818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2935,
          "referenceAllele": "C",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.2303C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Ser768="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2395,
          "referenceAllele": "C",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.2276C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Ser759="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825099198",
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.2453C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Ser818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.2453C="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.2453C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Ser818="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Ser818="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830340093",
      "coordinates": [
        {
          "allele": "C",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.1433C="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Ser478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}