{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356142756",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.1005+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3108695[alleleid]",
        "alleleId": 3108695,
        "preferredName": "NM_147127.5(EVC2):c.1005+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2948331",
        "RCV": [
          "RCV003807153"
        ],
        "variationId": 2948331
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5667241C>T?assembly=hg19",
        "id": "chr4:g.5667241C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5665514C>T?assembly=hg38",
        "id": "chr4:g.5665514C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2475514671",
        "rs": 2475514671
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5665514-C-T?dataset=gnomad_r4",
        "id": "4-5665514-C-T",
        "variant": "4:5665514 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5665514,
          "referenceAllele": "C",
          "start": 5665513
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5665514C>T",
        "CM000666.2:g.5665514C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5667241,
          "referenceAllele": "C",
          "start": 5667240
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5667241C>T",
        "CM000666.1:g.5667241C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5718142,
          "referenceAllele": "C",
          "start": 5718141
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5718142C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49035,
          "referenceAllele": "G",
          "start": 49034
        }
      ],
      "hgvs": [
        "NG_015821.1:g.49035G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.1005+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:n.1005+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.1005+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.1005+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:n.1005+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:n.1005+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1059,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.1005+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:n.1005+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1059,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.1005+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:n.1005+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1058,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.1005+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:n.1005+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1058,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.1005+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:n.1005+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 948,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.1005+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:n.1005+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1101,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.-668+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.-668+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 749,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.-772+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.-772+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.1070+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.1005+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:n.1005+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.1005+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.1005+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:n.1005+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:n.1005+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.765+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:n.765+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}