{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752430092",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.2860C= (p.Arg954=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141401803",
        "rs": 141401803
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150947711,
          "referenceAllele": "G",
          "start": 150947710
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150947711G=",
        "CM000669.2:g.150947711G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150644799,
          "referenceAllele": "G",
          "start": 150644798
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150644799G=",
        "CM000669.1:g.150644799G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150275732,
          "referenceAllele": "G",
          "start": 150275731
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150275732G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35216,
          "referenceAllele": "C",
          "start": 35215
        }
      ],
      "hgvs": [
        "NG_008916.1:g.35216C=",
        "LRG_288:g.35216C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3693,
          "referenceAllele": "C",
          "start": 3692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.3693C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3268,
          "referenceAllele": "C",
          "start": 3267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.2860C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Arg954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.2860C="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.2860C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Arg954="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Arg954="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2141,
          "referenceAllele": "C",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.1840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Arg614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3262,
          "referenceAllele": "C",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.2860C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Arg954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2243,
          "referenceAllele": "C",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.1840C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Arg614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057716027",
      "coordinates": [
        {
          "allele": "C",
          "end": 3261,
          "referenceAllele": "C",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.2860C=",
        "LRG_288t1:c.2860C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Arg954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.1840C=",
        "LRG_288t3:c.1840C="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Arg614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2575,
          "referenceAllele": "C",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.2560C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Arg854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3080,
          "endIntronDirection": "-",
          "endIntronOffset": 19,
          "referenceAllele": "C",
          "start": 3080,
          "startIntronDirection": "-",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.1:c.2693-20C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:n.2693-20C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2672,
          "referenceAllele": "C",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.2560C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Arg854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2766,
          "endIntronDirection": "-",
          "endIntronOffset": 19,
          "referenceAllele": "C",
          "start": 2766,
          "startIntronDirection": "-",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.3:c.2693-20C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:n.2693-20C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3342,
          "referenceAllele": "C",
          "start": 3341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.2710C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Arg904="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2802,
          "referenceAllele": "C",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.2683C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Arg895="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057716027",
      "coordinates": [
        {
          "allele": "C",
          "end": 3268,
          "referenceAllele": "C",
          "start": 3267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.2860C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Arg954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.2860C="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.2860C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Arg954="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Arg954="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2141,
          "referenceAllele": "C",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.1840C="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Arg614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}