{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356148205",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.3558-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2188826[alleleid]",
        "alleleId": 2188826,
        "preferredName": "NM_147127.5(EVC2):c.3558-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2135571",
        "RCV": [
          "RCV003059631"
        ],
        "variationId": 2135571
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5567088T>C?assembly=hg19",
        "id": "chr4:g.5567088T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5565361T>C?assembly=hg38",
        "id": "chr4:g.5565361T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1319211611",
        "rs": 1319211611
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5567088-T-C?dataset=gnomad_r2_1",
        "id": "4-5567088-T-C",
        "variant": "4:5567088 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5565361-T-C?dataset=gnomad_r3",
        "id": "4-5565361-T-C",
        "variant": "4:5565361 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5565361-T-C?dataset=gnomad_r4",
        "id": "4-5565361-T-C",
        "variant": "4:5565361 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5565361,
          "referenceAllele": "T",
          "start": 5565360
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5565361T>C",
        "CM000666.2:g.5565361T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5567088,
          "referenceAllele": "T",
          "start": 5567087
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5567088T>C",
        "CM000666.1:g.5567088T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5617989,
          "referenceAllele": "T",
          "start": 5617988
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5617989T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149188,
          "referenceAllele": "A",
          "start": 149187
        }
      ],
      "hgvs": [
        "NG_015821.1:g.149188A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3603,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3603,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.3558-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:n.3558-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.3558-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.3558-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:n.3558-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:n.3558-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4049,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4049,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.3318-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:n.3318-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3611,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.3558-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:n.3558-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4049,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4049,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.3318-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:n.3318-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3650,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3650,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.*1951-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:n.*1951-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4049,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4049,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.3318-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:n.3318-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3611,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3611,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.3558-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:n.3558-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3619,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3619,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.3567-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:n.3567-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3619,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3619,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.3567-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:n.3567-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3509,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3509,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.3327-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:n.3327-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3600,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3600,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.3318-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:n.3318-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3487,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3487,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.3318-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:n.3318-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3645,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3645,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.1878-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.1878-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3397,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3397,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.1878-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.1878-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3407,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3407,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.3408-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3603,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3603,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.3558-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:n.3558-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.3558-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.3558-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:n.3558-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:n.3558-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4049,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4049,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.3318-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:n.3318-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}