{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3146465431",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.1513G= (p.Ala505=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793832",
        "rs": 1064793832
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2486045866",
        "rs": 2486045866
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150952469,
          "referenceAllele": "C",
          "start": 150952468
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150952469C=",
        "CM000669.2:g.150952469C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150649557,
          "referenceAllele": "C",
          "start": 150649556
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150649557C=",
        "CM000669.1:g.150649557C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150280490,
          "referenceAllele": "C",
          "start": 150280489
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150280490C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30458,
          "referenceAllele": "G",
          "start": 30457
        }
      ],
      "hgvs": [
        "NG_008916.1:g.30458G=",
        "LRG_288:g.30458G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.2:n.811G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684116.1:n.406G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2346,
          "referenceAllele": "G",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.2346G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1513G="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1513G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Ala505="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Ala505="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.493G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Ala165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1915,
          "referenceAllele": "G",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.493G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Ala165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000430723.4:c.1165G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387657.4:p.Ala389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.1:n.800G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "referenceAllele": "G",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000473610.5:n.818G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000532957.5:n.1736G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057708191",
      "coordinates": [
        {
          "allele": "G",
          "end": 1914,
          "referenceAllele": "G",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.1513G=",
        "LRG_288t1:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.1:c.493G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Ala165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1914,
          "referenceAllele": "G",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172056.2:c.1513G=",
        "LRG_288t2:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742053.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.493G=",
        "LRG_288t3:c.493G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Ala165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Ala405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "G",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.1:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Ala405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.3:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1995,
          "referenceAllele": "G",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.1363G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Ala455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "G",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.1336G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Ala446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057708191",
      "coordinates": [
        {
          "allele": "G",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Ala505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1513G="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1513G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Ala505="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Ala505="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.2:c.493G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Ala165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.493G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Ala165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}