{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA429886097",
  "communityStandardTitle": [
    "NM_001040142.2(SCN2A):c.3642T>C (p.Ile1214=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166223848T>C?assembly=hg19",
        "id": "chr2:g.166223848T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 165367338,
          "referenceAllele": "T",
          "start": 165367337
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165367338T>C",
        "CM000664.2:g.165367338T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166223848,
          "referenceAllele": "T",
          "start": 166223847
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166223848T>C",
        "CM000664.1:g.166223848T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 165932094,
          "referenceAllele": "T",
          "start": 165932093
        }
      ],
      "hgvs": [
        "NC_000002.10:g.165932094T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132937,
          "referenceAllele": "T",
          "start": 132936
        }
      ],
      "hgvs": [
        "NG_008143.1:g.132937T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000889"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.3:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.3642T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.3642T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Ile1214="
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Ile1214="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.7:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.3642T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.3642T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Ile1214="
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Ile1214="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4019,
          "referenceAllele": "T",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636071.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490107.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3941,
          "referenceAllele": "T",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636135.1:c.*1961T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489821.1:n.*1961T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4145,
          "referenceAllele": "T",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636384.2:c.*1629T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490765.1:n.*1629T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4594,
          "referenceAllele": "T",
          "start": 4593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636662.2:c.*4165T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489873.1:n.*4165T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3875,
          "referenceAllele": "T",
          "start": 3874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636769.1:c.*1584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490800.1:n.*1584T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3994,
          "referenceAllele": "T",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000636985.2:c.3246T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490849.1:p.Ile1082="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3748,
          "referenceAllele": "T",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000637266.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490866.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3798,
          "referenceAllele": "T",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000283256.10:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283256.6:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3693,
          "referenceAllele": "T",
          "start": 3692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375427.4:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364576.2:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3932,
          "referenceAllele": "T",
          "start": 3931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000375437.6:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364586.2:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3785,
          "referenceAllele": "T",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000480032.4:n.3785T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3846,
          "referenceAllele": "T",
          "start": 3845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "ENST00000631182.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486885.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3932,
          "referenceAllele": "T",
          "start": 3931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3693,
          "referenceAllele": "T",
          "start": 3692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066664820",
      "coordinates": [
        {
          "allele": "C",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3822,
          "referenceAllele": "T",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246750.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246807.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3942,
          "referenceAllele": "T",
          "start": 3941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3835,
          "referenceAllele": "T",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246754.3:c.3612T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246811.1:p.Ile1204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3031,
          "referenceAllele": "T",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246755.3:c.2889T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246812.1:p.Ile963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4082,
          "referenceAllele": "T",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511608.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509910.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3975,
          "referenceAllele": "T",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_011511609.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509911.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3948,
          "referenceAllele": "T",
          "start": 3947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_005246753.3:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246810.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3903,
          "referenceAllele": "T",
          "start": 3902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004656.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860145.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3800,
          "referenceAllele": "T",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004657.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860146.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4112,
          "referenceAllele": "T",
          "start": 4111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004658.1:c.2889T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860147.1:p.Ile963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3030,
          "referenceAllele": "T",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_017004659.1:c.1440T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860148.1:p.Ile480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560109"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3856,
          "referenceAllele": "T",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "XM_024453037.1:c.2889T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308805.1:p.Ile963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040142.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035232.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375437.7:c.3642T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040142.2:c.3642T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364586.2:p.Ile1214="
          },
          "RefSeq": {
            "hgvs": "NP_001035232.1:p.Ile1214="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4039,
          "referenceAllele": "T",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001040143.2:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035233.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371246.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358175.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000631182.3:c.3642T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001371246.1:c.3642T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486885.1:p.Ile1214="
          },
          "RefSeq": {
            "hgvs": "NP_001358175.1:p.Ile1214="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3748,
          "referenceAllele": "T",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_001371247.1:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358176.1:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066664820",
      "coordinates": [
        {
          "allele": "C",
          "end": 3774,
          "referenceAllele": "T",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NM_021007.3:c.3642T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066287.2:p.Ile1214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698348"
    }
  ],
  "type": "nucleotide"
}