{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752409593",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.1882G= (p.Gly628=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912507",
        "rs": 121912507
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150951511,
          "referenceAllele": "C",
          "start": 150951510
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150951511C=",
        "CM000669.2:g.150951511C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150648599,
          "referenceAllele": "C",
          "start": 150648598
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150648599C=",
        "CM000669.1:g.150648599C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150279532,
          "referenceAllele": "C",
          "start": 150279531
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150279532C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31416,
          "referenceAllele": "G",
          "start": 31415
        }
      ],
      "hgvs": [
        "NG_008916.1:g.31416G=",
        "LRG_288:g.31416G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.2:n.1180G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6,
          "referenceAllele": "G",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000683359.1:n.6G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.2715G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2290,
          "referenceAllele": "G",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.1882G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Gly628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1882G="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1882G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Gly628="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Gly628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.862G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Gly288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2284,
          "referenceAllele": "G",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.1882G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Gly628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.862G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Gly288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "G",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000430723.4:c.1534G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387657.4:p.Gly512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.1:n.1169G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000473610.5:n.1187G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000532957.5:n.2105G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057710277",
      "coordinates": [
        {
          "allele": "G",
          "end": 2283,
          "referenceAllele": "G",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.1882G=",
        "LRG_288t1:c.1882G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Gly628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.1:c.862G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Gly288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2283,
          "referenceAllele": "G",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172056.2:c.1882G=",
        "LRG_288t2:c.1882G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742053.1:p.Gly628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249428328",
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.862G=",
        "LRG_288t3:c.862G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Gly288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1597,
          "referenceAllele": "G",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.1582G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Gly528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2270,
          "referenceAllele": "G",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.1:c.1882G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Gly628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "G",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.1582G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Gly528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.3:c.1882G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Gly628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2364,
          "referenceAllele": "G",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.1732G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Gly578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1824,
          "referenceAllele": "G",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.1705G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Gly569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057710277",
      "coordinates": [
        {
          "allele": "G",
          "end": 2290,
          "referenceAllele": "G",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.1882G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Gly628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1882G="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1882G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Gly628="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Gly628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.2:c.862G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Gly288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249428328",
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.862G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Gly288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}