{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043222",
  "communityStandardTitle": [
    "NM_172107.4(KCNQ2):c.1631G>A (p.Cys544Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360583[alleleid]",
        "alleleId": 360583,
        "preferredName": "NM_172107.4(KCNQ2):c.1631G>A (p.Cys544Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373576",
        "RCV": [
          "RCV000412766"
        ],
        "variationId": 373576
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62045441C>T?assembly=hg19",
        "id": "chr20:g.62045441C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63414088C>T?assembly=hg38",
        "id": "chr20:g.63414088C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518492",
        "rs": 1057518492
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 63414088,
          "referenceAllele": "C",
          "start": 63414087
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63414088C>T",
        "CM000682.2:g.63414088C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 62045441,
          "referenceAllele": "C",
          "start": 62045440
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62045441C>T",
        "CM000682.1:g.62045441C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 61515885,
          "referenceAllele": "C",
          "start": 61515884
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61515885C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63553,
          "referenceAllele": "G",
          "start": 63552
        }
      ],
      "hgvs": [
        "NG_009004.1:g.63553G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63553,
          "referenceAllele": "G",
          "start": 63552
        }
      ],
      "hgvs": [
        "NG_009004.2:g.63553G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616122"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000706989.1:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516702.1:p.Cys526Tyr",
        "hgvsWellDefined": "ENSP00000516702.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000359125.7:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352035.2:p.Cys544Tyr",
        "hgvsWellDefined": "ENSP00000352035.2:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749156",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359125.7:c.1631G>A"
          },
          "RefSeq": {
            "hgvs": "NM_172107.4:c.1631G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352035.2:p.Cys544Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_742105.1:p.Cys544Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000637193.1:c.1028G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490734.1:p.Cys343Tyr",
        "hgvsWellDefined": "ENSP00000490734.1:p.Cys343Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000344462.8:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339611.4:p.Cys513Tyr",
        "hgvsWellDefined": "ENSP00000339611.4:p.Cys513Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000357249.6:c.1199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349789.3:p.Cys400Tyr",
        "hgvsWellDefined": "ENSP00000349789.3:p.Cys400Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "G",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000359125.6:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352035.2:p.Cys544Tyr",
        "hgvsWellDefined": "ENSP00000352035.2:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000360480.7:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353668.3:p.Cys516Tyr",
        "hgvsWellDefined": "ENSP00000353668.3:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1682,
          "referenceAllele": "G",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000370224.5:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359244.2:p.Cys516Tyr",
        "hgvsWellDefined": "ENSP00000359244.2:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000625514.2:c.1511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486040.1:p.Cys504Tyr",
        "hgvsWellDefined": "ENSP00000486040.1:p.Cys504Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000626839.2:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486706.1:p.Cys526Tyr",
        "hgvsWellDefined": "ENSP00000486706.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000627221.2:c.688G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629241.2:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487142.1:p.Cys516Tyr",
        "hgvsWellDefined": "ENSP00000487142.1:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629318.1:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487384.1:p.Cys80Tyr",
        "hgvsWellDefined": "ENSP00000487384.1:p.Cys80Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629676.2:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486194.1:p.Cys516Tyr",
        "hgvsWellDefined": "ENSP00000486194.1:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531329",
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.4:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:p.Cys516Tyr",
        "hgvsWellDefined": "NP_004509.2:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830345043",
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.1:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Cys526Tyr",
        "hgvsWellDefined": "NP_742104.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645422611",
      "coordinates": [
        {
          "allele": "A",
          "end": 1808,
          "referenceAllele": "G",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.2:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Cys544Tyr",
        "hgvsWellDefined": "NP_742105.1:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830347098",
      "coordinates": [
        {
          "allele": "A",
          "end": 1715,
          "referenceAllele": "G",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.3:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Cys513Tyr",
        "hgvsWellDefined": "NP_742106.1:p.Cys513Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_006723787.1:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723850.1:p.Cys544Tyr",
        "hgvsWellDefined": "XP_006723850.1:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528807.1:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527109.1:p.Cys544Tyr",
        "hgvsWellDefined": "XP_011527109.1:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528808.1:c.1628G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527110.1:p.Cys543Tyr",
        "hgvsWellDefined": "XP_011527110.1:p.Cys543Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528809.1:c.1601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527111.1:p.Cys534Tyr",
        "hgvsWellDefined": "XP_011527111.1:p.Cys534Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1703,
          "referenceAllele": "G",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528810.1:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527112.1:p.Cys526Tyr",
        "hgvsWellDefined": "XP_011527112.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528811.1:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527113.1:p.Cys516Tyr",
        "hgvsWellDefined": "XP_011527113.1:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528812.1:c.1628G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527114.1:p.Cys543Tyr",
        "hgvsWellDefined": "XP_011527114.1:p.Cys543Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "G",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528813.1:c.1505G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527115.1:p.Cys502Tyr",
        "hgvsWellDefined": "XP_011527115.1:p.Cys502Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "G",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528814.1:c.1112G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527116.1:p.Cys371Tyr",
        "hgvsWellDefined": "XP_011527116.1:p.Cys371Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528815.1:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527117.1:p.Cys544Tyr",
        "hgvsWellDefined": "XP_011527117.1:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531329",
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.5:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:p.Cys516Tyr",
        "hgvsWellDefined": "NP_004509.2:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830345043",
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.2:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Cys526Tyr",
        "hgvsWellDefined": "NP_742104.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645422611",
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.3:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Cys544Tyr",
        "hgvsWellDefined": "NP_742105.1:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830347098",
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "referenceAllele": "G",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.4:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Cys513Tyr",
        "hgvsWellDefined": "NP_742106.1:p.Cys513Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528810.2:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527112.1:p.Cys526Tyr",
        "hgvsWellDefined": "XP_011527112.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528811.2:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527113.1:p.Cys516Tyr",
        "hgvsWellDefined": "XP_011527113.1:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027841.2:c.1574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883330.1:p.Cys525Tyr",
        "hgvsWellDefined": "XP_016883330.1:p.Cys525Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027842.2:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883331.1:p.Cys526Tyr",
        "hgvsWellDefined": "XP_016883331.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
          "referenceAllele": "G",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027843.1:c.1508G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883332.1:p.Cys503Tyr",
        "hgvsWellDefined": "XP_016883332.1:p.Cys503Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027844.2:c.1574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883333.1:p.Cys525Tyr",
        "hgvsWellDefined": "XP_016883333.1:p.Cys525Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027845.1:c.539G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883334.1:p.Cys180Tyr",
        "hgvsWellDefined": "XP_016883334.1:p.Cys180Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829531329",
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.6:c.1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:p.Cys516Tyr",
        "hgvsWellDefined": "NP_004509.2:p.Cys516Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830345043",
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.3:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Cys526Tyr",
        "hgvsWellDefined": "NP_742104.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645422611",
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.4:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Cys544Tyr",
        "hgvsWellDefined": "NP_742105.1:p.Cys544Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359125.7:c.1631G>A"
          },
          "RefSeq": {
            "hgvs": "NM_172107.4:c.1631G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352035.2:p.Cys544Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_742105.1:p.Cys544Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830347098",
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.5:c.1538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Cys513Tyr",
        "hgvsWellDefined": "NP_742106.1:p.Cys513Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_001382235.1:c.1577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369164.1:p.Cys526Tyr",
        "hgvsWellDefined": "NP_001369164.1:p.Cys526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722196"
    }
  ],
  "type": "nucleotide"
}