{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752410265",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.1744C= (p.Arg582=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912508",
        "rs": 121912508
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150951649,
          "referenceAllele": "G",
          "start": 150951648
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150951649G=",
        "CM000669.2:g.150951649G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150648737,
          "referenceAllele": "G",
          "start": 150648736
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150648737G=",
        "CM000669.1:g.150648737G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150279670,
          "referenceAllele": "G",
          "start": 150279669
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150279670G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31278,
          "referenceAllele": "C",
          "start": 31277
        }
      ],
      "hgvs": [
        "NG_008916.1:g.31278C=",
        "LRG_288:g.31278C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.2:n.1042C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.2577C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2152,
          "referenceAllele": "C",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.1744C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Arg582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1744C="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1744C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Arg582="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Arg582="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.724C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Arg242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.1744C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Arg582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.724C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Arg242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000430723.4:c.1396C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387657.4:p.Arg466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.1:n.1031C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000473610.5:n.1049C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000532957.5:n.1967C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825098925",
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.1744C=",
        "LRG_288t1:c.1744C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Arg582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826275060",
      "coordinates": [
        {
          "allele": "C",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.1:c.724C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Arg242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830338098",
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172056.2:c.1744C=",
        "LRG_288t2:c.1744C="
      ],
      "proteinEffect": {
        "hgvs": "NP_742053.1:p.Arg582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830339346",
      "coordinates": [
        {
          "allele": "C",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.724C=",
        "LRG_288t3:c.724C="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Arg242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2132,
          "referenceAllele": "C",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.1:c.1744C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Arg582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.3:c.1744C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Arg582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2226,
          "referenceAllele": "C",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.1594C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Arg532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1686,
          "referenceAllele": "C",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.1567C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Arg523="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825098925",
      "coordinates": [
        {
          "allele": "C",
          "end": 2152,
          "referenceAllele": "C",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.1744C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Arg582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1744C="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1744C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Arg582="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Arg582="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826275060",
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.2:c.724C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Arg242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830339346",
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.724C="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Arg242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}