{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2834424",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295104[alleleid]",
        "alleleId": 295104,
        "preferredName": "NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/348987",
        "RCV": [
          "RCV000335220",
          "RCV000939676"
        ],
        "variationId": 348987
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-5578065-C-T",
        "id": "4-5578065-C-T",
        "variant": "4:5578065 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5578065C>T?assembly=hg19",
        "id": "chr4:g.5578065C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5576338C>T?assembly=hg38",
        "id": "chr4:g.5576338C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/555652075",
        "rs": 555652075
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5578065-C-T?dataset=gnomad_r2_1",
        "id": "4-5578065-C-T",
        "variant": "4:5578065 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5576338-C-T?dataset=gnomad_r3",
        "id": "4-5576338-C-T",
        "variant": "4:5576338 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5576338-C-T?dataset=gnomad_r4",
        "id": "4-5576338-C-T",
        "variant": "4:5576338 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5576338,
          "referenceAllele": "C",
          "start": 5576337
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5576338C>T",
        "CM000666.2:g.5576338C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5578065,
          "referenceAllele": "C",
          "start": 5578064
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5578065C>T",
        "CM000666.1:g.5578065C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5628966,
          "referenceAllele": "C",
          "start": 5628965
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5628966C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138211,
          "referenceAllele": "G",
          "start": 138210
        }
      ],
      "hgvs": [
        "NG_015821.1:g.138211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "G",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.3174G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Leu1058="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.3174G>A"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.3174G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Leu1058="
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Leu1058="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Leu978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3228,
          "referenceAllele": "G",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.3174G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Leu1058="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:p.Leu978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3267,
          "referenceAllele": "G",
          "start": 3266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.*1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:n.*1567G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025768",
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Leu978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830309762",
      "coordinates": [
        {
          "allele": "A",
          "end": 3228,
          "referenceAllele": "G",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.3174G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Leu1058="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3236,
          "referenceAllele": "G",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.3183G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Leu1061="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3236,
          "referenceAllele": "G",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.3183G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:p.Leu1061="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3126,
          "referenceAllele": "G",
          "start": 3125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.2943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Leu981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3217,
          "referenceAllele": "G",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Leu978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3104,
          "referenceAllele": "G",
          "start": 3103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Leu978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3239,
          "referenceAllele": "G",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.3174G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:p.Leu1058="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3262,
          "referenceAllele": "G",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.1494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:p.Leu498="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3014,
          "referenceAllele": "G",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.1494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:p.Leu498="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3122,
          "endIntronDirection": "-",
          "endIntronOffset": 1565,
          "referenceAllele": "G",
          "start": 3122,
          "startIntronDirection": "-",
          "startIntronOffset": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.3123-1566G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830309762",
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "G",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.3174G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Leu1058="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.3174G>A"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.3174G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Leu1058="
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Leu1058="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025768",
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Leu978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}