{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356148254",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.688A>C (p.Ser230Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5690902T>G?assembly=hg19",
        "id": "chr4:g.5690902T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5689175T>G?assembly=hg38",
        "id": "chr4:g.5689175T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5689175,
          "referenceAllele": "T",
          "start": 5689174
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5689175T>G",
        "CM000666.2:g.5689175T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5690902,
          "referenceAllele": "T",
          "start": 5690901
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5690902T>G",
        "CM000666.1:g.5690902T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 5741803,
          "referenceAllele": "T",
          "start": 5741802
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5741803T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25374,
          "referenceAllele": "A",
          "start": 25373
        }
      ],
      "hgvs": [
        "NG_015821.1:g.25374A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "referenceAllele": "A",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.688A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Ser230Arg",
        "hgvsWellDefined": "ENSP00000342144.5:p.Ser230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.688A>C"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.688A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Ser230Arg"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Ser230Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "referenceAllele": "A",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Ser150Arg",
        "hgvsWellDefined": "ENSP00000311683.2:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.688A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Ser230Arg",
        "hgvsWellDefined": "ENSP00000342144.5:p.Ser230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "referenceAllele": "A",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:p.Ser150Arg",
        "hgvsWellDefined": "ENSP00000431981.1:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "A",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:p.Ser150Arg",
        "hgvsWellDefined": "ENSP00000423876.1:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025069",
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "referenceAllele": "A",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Ser150Arg",
        "hgvsWellDefined": "NP_001159608.1:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139746432",
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.688A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Ser230Arg",
        "hgvsWellDefined": "NP_667338.3:p.Ser230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "referenceAllele": "A",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.688A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Ser230Arg",
        "hgvsWellDefined": "XP_011511694.1:p.Ser230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "referenceAllele": "A",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.688A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:p.Ser230Arg",
        "hgvsWellDefined": "XP_011511695.1:p.Ser230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Ser150Arg",
        "hgvsWellDefined": "XP_011511696.1:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Ser150Arg",
        "hgvsWellDefined": "XP_016863225.1:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Ser150Arg",
        "hgvsWellDefined": "XP_016863226.1:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 753,
          "referenceAllele": "A",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.688A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:p.Ser230Arg",
        "hgvsWellDefined": "XP_016863227.1:p.Ser230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.-985A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.-985A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.-1089A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.-1089A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 753,
          "referenceAllele": "A",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.753A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139746432",
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "referenceAllele": "A",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.688A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Ser230Arg",
        "hgvsWellDefined": "NP_667338.3:p.Ser230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.688A>C"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.688A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Ser230Arg"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Ser230Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025069",
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "referenceAllele": "A",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.448A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Ser150Arg",
        "hgvsWellDefined": "NP_001159608.1:p.Ser150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}