{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2834168",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536669[alleleid]",
        "alleleId": 536669,
        "preferredName": "NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546568",
        "RCV": [
          "RCV000658467",
          "RCV001080173"
        ],
        "variationId": 546568
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-5564643-C-T",
        "id": "4-5564643-C-T",
        "variant": "4:5564643 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5564643C>T?assembly=hg19",
        "id": "chr4:g.5564643C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5562916C>T?assembly=hg38",
        "id": "chr4:g.5562916C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771435248",
        "rs": 771435248
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5564643-C-T?dataset=gnomad_r2_1",
        "id": "4-5564643-C-T",
        "variant": "4:5564643 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5562916-C-T?dataset=gnomad_r3",
        "id": "4-5562916-C-T",
        "variant": "4:5562916 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5562916-C-T?dataset=gnomad_r4",
        "id": "4-5562916-C-T",
        "variant": "4:5562916 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5562916,
          "referenceAllele": "C",
          "start": 5562915
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5562916C>T",
        "CM000666.2:g.5562916C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5564643,
          "referenceAllele": "C",
          "start": 5564642
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5564643C>T",
        "CM000666.1:g.5564643C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5615544,
          "referenceAllele": "C",
          "start": 5615543
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5615544C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151633,
          "referenceAllele": "G",
          "start": 151632
        }
      ],
      "hgvs": [
        "NG_015821.1:g.151633G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3905,
          "referenceAllele": "G",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.3859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Val1287Ile",
        "hgvsWellDefined": "ENSP00000342144.5:p.Val1287Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.3859G>A"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.3859G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Val1287Ile"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Val1287Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Val1207Ile",
        "hgvsWellDefined": "ENSP00000311683.2:p.Val1207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.3859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Val1287Ile",
        "hgvsWellDefined": "ENSP00000342144.5:p.Val1287Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4151,
          "endIntronDirection": "+",
          "endIntronOffset": 2342,
          "referenceAllele": "G",
          "start": 4151,
          "startIntronDirection": "+",
          "startIntronOffset": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.3419+2342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:n.3419+2342G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.*2252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:n.*2252G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025948",
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Val1207Ile",
        "hgvsWellDefined": "NP_001159608.1:p.Val1207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830330",
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.3859G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Val1287Ile",
        "hgvsWellDefined": "NP_667338.3:p.Val1287Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3921,
          "referenceAllele": "G",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.3868G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Val1290Ile",
        "hgvsWellDefined": "XP_011511694.1:p.Val1290Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "endIntronDirection": "+",
          "endIntronOffset": 2342,
          "referenceAllele": "G",
          "start": 3721,
          "startIntronDirection": "+",
          "startIntronOffset": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.3668+2342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:n.3668+2342G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3811,
          "referenceAllele": "G",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.3628G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Val1210Ile",
        "hgvsWellDefined": "XP_011511696.1:p.Val1210Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3902,
          "referenceAllele": "G",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Val1207Ile",
        "hgvsWellDefined": "XP_016863225.1:p.Val1207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3789,
          "referenceAllele": "G",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Val1207Ile",
        "hgvsWellDefined": "XP_016863226.1:p.Val1207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3947,
          "referenceAllele": "G",
          "start": 3946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:p.Val727Ile",
        "hgvsWellDefined": "XP_016863228.1:p.Val727Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3699,
          "referenceAllele": "G",
          "start": 3698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:p.Val727Ile",
        "hgvsWellDefined": "XP_024309661.1:p.Val727Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3709,
          "referenceAllele": "G",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.3709G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830330",
      "coordinates": [
        {
          "allele": "A",
          "end": 3905,
          "referenceAllele": "G",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.3859G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Val1287Ile",
        "hgvsWellDefined": "NP_667338.3:p.Val1287Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.3859G>A"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.3859G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Val1287Ile"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Val1287Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025948",
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Val1207Ile",
        "hgvsWellDefined": "NP_001159608.1:p.Val1207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}