{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2835497",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.328T>C (p.Phe110Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=698582[alleleid]",
        "alleleId": 698582,
        "preferredName": "NM_147127.5(EVC2):c.328T>C (p.Phe110Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/771802",
        "RCV": [
          "RCV000951184"
        ],
        "variationId": 771802
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-5696184-A-G",
        "id": "4-5696184-A-G",
        "variant": "4:5696184 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5696184A>G?assembly=hg19",
        "id": "chr4:g.5696184A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5694457A>G?assembly=hg38",
        "id": "chr4:g.5694457A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150444745",
        "rs": 150444745
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5696184-A-G?dataset=gnomad_r2_1",
        "id": "4-5696184-A-G",
        "variant": "4:5696184 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5694457-A-G?dataset=gnomad_r3",
        "id": "4-5694457-A-G",
        "variant": "4:5694457 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5694457-A-G?dataset=gnomad_r4",
        "id": "4-5694457-A-G",
        "variant": "4:5694457 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5694457,
          "referenceAllele": "A",
          "start": 5694456
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5694457A>G",
        "CM000666.2:g.5694457A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5696184,
          "referenceAllele": "A",
          "start": 5696183
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5696184A>G",
        "CM000666.1:g.5696184A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5747085,
          "referenceAllele": "A",
          "start": 5747084
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5747085A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20092,
          "referenceAllele": "T",
          "start": 20091
        }
      ],
      "hgvs": [
        "NG_015821.1:g.20092T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "T",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.328T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Phe110Leu",
        "hgvsWellDefined": "ENSP00000342144.5:p.Phe110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.328T>C"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.328T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Phe110Leu"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Phe110Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Phe30Leu",
        "hgvsWellDefined": "ENSP00000311683.2:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "T",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.328T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Phe110Leu",
        "hgvsWellDefined": "ENSP00000342144.5:p.Phe110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:p.Phe30Leu",
        "hgvsWellDefined": "ENSP00000431981.1:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:p.Phe30Leu",
        "hgvsWellDefined": "ENSP00000423876.1:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989668",
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Phe30Leu",
        "hgvsWellDefined": "NP_001159608.1:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830307966",
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "T",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.328T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Phe110Leu",
        "hgvsWellDefined": "NP_667338.3:p.Phe110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.328T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Phe110Leu",
        "hgvsWellDefined": "XP_011511694.1:p.Phe110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.328T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:p.Phe110Leu",
        "hgvsWellDefined": "XP_011511695.1:p.Phe110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "T",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Phe30Leu",
        "hgvsWellDefined": "XP_011511696.1:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "referenceAllele": "T",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Phe30Leu",
        "hgvsWellDefined": "XP_016863225.1:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "T",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Phe30Leu",
        "hgvsWellDefined": "XP_016863226.1:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.328T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:p.Phe110Leu",
        "hgvsWellDefined": "XP_016863227.1:p.Phe110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.-1345T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.-1345T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72,
          "referenceAllele": "T",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.-1449T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.-1449T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.393T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830307966",
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "T",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.328T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Phe110Leu",
        "hgvsWellDefined": "NP_667338.3:p.Phe110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.328T>C"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.328T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Phe110Leu"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Phe110Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989668",
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Phe30Leu",
        "hgvsWellDefined": "NP_001159608.1:p.Phe30Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}