{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342468",
  "communityStandardTitle": [
    "NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34613[alleleid]",
        "alleleId": 34613,
        "preferredName": "NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21761",
        "RCV": [
          "RCV000678057"
        ],
        "variationId": 21761
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62050985G>A?assembly=hg19",
        "id": "chr20:g.62050985G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63419632G>A?assembly=hg38",
        "id": "chr20:g.63419632G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192224",
        "rs": 118192224
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 63419632,
          "referenceAllele": "G",
          "start": 63419631
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63419632G>A",
        "CM000682.2:g.63419632G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 62050985,
          "referenceAllele": "G",
          "start": 62050984
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62050985G>A",
        "CM000682.1:g.62050985G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 61521429,
          "referenceAllele": "G",
          "start": 61521428
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61521429G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58009,
          "referenceAllele": "C",
          "start": 58008
        }
      ],
      "hgvs": [
        "NG_009004.1:g.58009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58009,
          "referenceAllele": "C",
          "start": 58008
        }
      ],
      "hgvs": [
        "NG_009004.2:g.58009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616122"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1439,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000706989.1:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516702.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000359125.7:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352035.2:p.Pro430Ser",
        "hgvsWellDefined": "ENSP00000352035.2:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749156",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359125.7:c.1288C>T"
          },
          "RefSeq": {
            "hgvs": "NM_172107.4:c.1288C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352035.2:p.Pro430Ser"
          },
          "RefSeq": {
            "hgvs": "NP_742105.1:p.Pro430Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1100,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000637193.1:c.699-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490734.1:n.699-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 4455,
          "referenceAllele": "C",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 4454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000637584.1:n.74+4455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "endIntronDirection": "-",
          "endIntronOffset": 4541,
          "referenceAllele": "C",
          "start": 1293,
          "startIntronDirection": "-",
          "startIntronOffset": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000344462.8:c.1248-4542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339611.4:n.1248-4542C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "endIntronDirection": "-",
          "endIntronOffset": 4541,
          "referenceAllele": "C",
          "start": 905,
          "startIntronDirection": "-",
          "startIntronOffset": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000357249.6:c.906-4542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349789.3:n.906-4542C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000359125.6:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352035.2:p.Pro430Ser",
        "hgvsWellDefined": "ENSP00000352035.2:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1259,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000360480.7:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353668.3:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1352,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1352,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000370224.5:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359244.2:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "endIntronDirection": "-",
          "endIntronOffset": 4541,
          "referenceAllele": "C",
          "start": 1309,
          "startIntronDirection": "-",
          "startIntronOffset": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000625514.2:c.1218-4542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486040.1:n.1218-4542C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1461,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000626839.2:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486706.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 361,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000627221.2:c.362-4506C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1309,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629241.2:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487142.1:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1309,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629676.2:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486194.1:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1394,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.4:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1424,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.1:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342469",
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.2:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Pro430Ser",
        "hgvsWellDefined": "NP_742105.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "endIntronDirection": "-",
          "endIntronOffset": 4541,
          "referenceAllele": "C",
          "start": 1424,
          "startIntronDirection": "-",
          "startIntronOffset": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.3:c.1248-4542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:n.1248-4542C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_006723787.1:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723850.1:p.Pro430Ser",
        "hgvsWellDefined": "XP_006723850.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528807.1:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527109.1:p.Pro430Ser",
        "hgvsWellDefined": "XP_011527109.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528808.1:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527110.1:p.Pro430Ser",
        "hgvsWellDefined": "XP_011527110.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528809.1:c.1258C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527111.1:p.Pro420Ser",
        "hgvsWellDefined": "XP_011527111.1:p.Pro420Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1373,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528810.1:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527112.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1343,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528811.1:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527113.1:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528812.1:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527114.1:p.Pro430Ser",
        "hgvsWellDefined": "XP_011527114.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528813.1:c.1162C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527115.1:p.Pro388Ser",
        "hgvsWellDefined": "XP_011527115.1:p.Pro388Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528814.1:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527116.1:p.Pro257Ser",
        "hgvsWellDefined": "XP_011527116.1:p.Pro257Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528815.1:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527117.1:p.Pro430Ser",
        "hgvsWellDefined": "XP_011527117.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1431,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.5:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1461,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.2:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342469",
      "coordinates": [
        {
          "allele": "T",
          "end": 1502,
          "referenceAllele": "C",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.3:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Pro430Ser",
        "hgvsWellDefined": "NP_742105.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "endIntronDirection": "-",
          "endIntronOffset": 4541,
          "referenceAllele": "C",
          "start": 1461,
          "startIntronDirection": "-",
          "startIntronOffset": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.4:c.1248-4542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:n.1248-4542C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1405,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528810.2:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527112.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1375,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528811.2:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527113.1:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1405,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027841.2:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883330.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1405,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027842.2:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883331.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1266,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027843.1:c.1179-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883332.1:n.1179-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1405,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027844.2:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883333.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027845.1:c.196C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883334.1:p.Pro66Ser",
        "hgvsWellDefined": "XP_016883334.1:p.Pro66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1409,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1409,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.6:c.1218-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:n.1218-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1439,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.3:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342469",
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.4:c.1288C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Pro430Ser",
        "hgvsWellDefined": "NP_742105.1:p.Pro430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359125.7:c.1288C>T"
          },
          "RefSeq": {
            "hgvs": "NM_172107.4:c.1288C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352035.2:p.Pro430Ser"
          },
          "RefSeq": {
            "hgvs": "NP_742105.1:p.Pro430Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "endIntronDirection": "-",
          "endIntronOffset": 4541,
          "referenceAllele": "C",
          "start": 1439,
          "startIntronDirection": "-",
          "startIntronOffset": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.5:c.1248-4542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:n.1248-4542C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "endIntronDirection": "-",
          "endIntronOffset": 4505,
          "referenceAllele": "C",
          "start": 1439,
          "startIntronDirection": "-",
          "startIntronOffset": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_001382235.1:c.1248-4506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369164.1:n.1248-4506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722196"
    }
  ],
  "type": "nucleotide"
}