{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1304563823",
  "communityStandardTitle": [
    "NM_001040142.2(SCN2A):c.4780T= (p.Trp1594=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518111",
        "rs": 1057518111
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165386974,
          "referenceAllele": "T",
          "start": 165386973
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165386974T=",
        "CM000664.2:g.165386974T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166243484,
          "referenceAllele": "T",
          "start": 166243483
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166243484T=",
        "CM000664.1:g.166243484T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 165951730,
          "referenceAllele": "T",
          "start": 165951729
        }
      ],
      "hgvs": [
        "NC_000002.10:g.165951730T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152573,
          "referenceAllele": "T",
          "start": 152572
        }
      ],
      "hgvs": [
        "NG_008143.1:g.152573T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000889"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5058,
          "referenceAllele": "T",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.3:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.4780T="
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.4780T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Trp1594="
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Trp1594="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5058,
          "referenceAllele": "T",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.7:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.4780T="
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.4780T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Trp1594="
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Trp1594="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5157,
          "referenceAllele": "T",
          "start": 5156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636071.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490107.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5079,
          "referenceAllele": "T",
          "start": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636135.1:c.*3099T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489821.1:n.*3099T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5283,
          "referenceAllele": "T",
          "start": 5282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636384.2:c.*2767T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490765.1:n.*2767T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5732,
          "referenceAllele": "T",
          "start": 5731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636662.2:c.*5303T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489873.1:n.*5303T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5013,
          "referenceAllele": "T",
          "start": 5012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636769.1:c.*2722T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490800.1:n.*2722T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5132,
          "referenceAllele": "T",
          "start": 5131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636985.2:c.4384T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490849.1:p.Trp1462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4886,
          "referenceAllele": "T",
          "start": 4885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000637266.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490866.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4936,
          "referenceAllele": "T",
          "start": 4935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000283256.10:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283256.6:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4831,
          "referenceAllele": "T",
          "start": 4830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375427.4:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364576.2:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "T",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.6:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8211,
          "referenceAllele": "T",
          "start": 8210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000480032.4:n.8211T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4984,
          "referenceAllele": "T",
          "start": 4983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "T",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4831,
          "referenceAllele": "T",
          "start": 4830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067233543",
      "coordinates": [
        {
          "allele": "T",
          "end": 5136,
          "referenceAllele": "T",
          "start": 5135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4960,
          "referenceAllele": "T",
          "start": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246750.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246807.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5080,
          "referenceAllele": "T",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4973,
          "referenceAllele": "T",
          "start": 4972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246754.3:c.4750T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246811.1:p.Trp1584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4169,
          "referenceAllele": "T",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246755.3:c.4027T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246812.1:p.Trp1343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5220,
          "referenceAllele": "T",
          "start": 5219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511608.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509910.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5113,
          "referenceAllele": "T",
          "start": 5112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511609.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509911.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "T",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.3:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "T",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004656.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860145.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4938,
          "referenceAllele": "T",
          "start": 4937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004657.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860146.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5250,
          "referenceAllele": "T",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004658.1:c.4027T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860147.1:p.Trp1343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4168,
          "referenceAllele": "T",
          "start": 4167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004659.1:c.2578T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860148.1:p.Trp860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4994,
          "referenceAllele": "T",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_024453037.1:c.4027T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308805.1:p.Trp1343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5058,
          "referenceAllele": "T",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.4780T="
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.4780T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Trp1594="
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Trp1594="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5177,
          "referenceAllele": "T",
          "start": 5176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.2:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5058,
          "referenceAllele": "T",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371246.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358175.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.4780T="
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.4780T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Trp1594="
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Trp1594="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4886,
          "referenceAllele": "T",
          "start": 4885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371247.1:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358176.1:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067233543",
      "coordinates": [
        {
          "allele": "T",
          "end": 4912,
          "referenceAllele": "T",
          "start": 4911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.3:c.4780T="
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Trp1594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698348"
    }
  ],
  "type": "nucleotide"
}