{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116170",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.848T>G (p.Ile283Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18424[alleleid]",
        "alleleId": 18424,
        "preferredName": "NM_147127.5(EVC2):c.848T>G (p.Ile283Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3385",
        "RCV": [
          "RCV000003552"
        ],
        "variationId": 3385
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5683009A>C?assembly=hg19",
        "id": "chr4:g.5683009A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5681282A>C?assembly=hg38",
        "id": "chr4:g.5681282A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852926",
        "rs": 137852926
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5683009-A-C?dataset=gnomad_r2_1",
        "id": "4-5683009-A-C",
        "variant": "4:5683009 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5681282-A-C?dataset=gnomad_r4",
        "id": "4-5681282-A-C",
        "variant": "4:5681282 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5681282,
          "referenceAllele": "A",
          "start": 5681281
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5681282A>C",
        "CM000666.2:g.5681282A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5683009,
          "referenceAllele": "A",
          "start": 5683008
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5683009A>C",
        "CM000666.1:g.5683009A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5733910,
          "referenceAllele": "A",
          "start": 5733909
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5733910A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33267,
          "referenceAllele": "T",
          "start": 33266
        }
      ],
      "hgvs": [
        "NG_015821.1:g.33267T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.848T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Ile283Arg",
        "hgvsWellDefined": "ENSP00000342144.5:p.Ile283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.848T>G"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.848T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Ile283Arg"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Ile283Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Ile203Arg",
        "hgvsWellDefined": "ENSP00000311683.2:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 902,
          "referenceAllele": "T",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.848T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Ile283Arg",
        "hgvsWellDefined": "ENSP00000342144.5:p.Ile283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:p.Ile203Arg",
        "hgvsWellDefined": "ENSP00000431981.1:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "T",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:p.Ile203Arg",
        "hgvsWellDefined": "ENSP00000423876.1:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116171",
      "coordinates": [
        {
          "allele": "G",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Ile203Arg",
        "hgvsWellDefined": "NP_001159608.1:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100320",
      "coordinates": [
        {
          "allele": "G",
          "end": 902,
          "referenceAllele": "T",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.848T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Ile283Arg",
        "hgvsWellDefined": "NP_667338.3:p.Ile283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "T",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.848T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Ile283Arg",
        "hgvsWellDefined": "XP_011511694.1:p.Ile283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "T",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.848T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:p.Ile283Arg",
        "hgvsWellDefined": "XP_011511695.1:p.Ile283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "T",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Ile203Arg",
        "hgvsWellDefined": "XP_011511696.1:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "T",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Ile203Arg",
        "hgvsWellDefined": "XP_016863225.1:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Ile203Arg",
        "hgvsWellDefined": "XP_016863226.1:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.848T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:p.Ile283Arg",
        "hgvsWellDefined": "XP_016863227.1:p.Ile283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "referenceAllele": "T",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.-825T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.-825T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.-929T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.-929T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.913T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100320",
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.848T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Ile283Arg",
        "hgvsWellDefined": "NP_667338.3:p.Ile283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.848T>G"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.848T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Ile283Arg"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Ile283Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA116171",
      "coordinates": [
        {
          "allele": "G",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.608T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Ile203Arg",
        "hgvsWellDefined": "NP_001159608.1:p.Ile203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}