{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2834641",
  "communityStandardTitle": [
    "NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298779[alleleid]",
        "alleleId": 298779,
        "preferredName": "NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349001",
        "RCV": [
          "RCV000389188",
          "RCV000966668"
        ],
        "variationId": 349001
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-5620267-T-C",
        "id": "4-5620267-T-C",
        "variant": "4:5620267 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5620267T>C?assembly=hg19",
        "id": "chr4:g.5620267T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5618540T>C?assembly=hg38",
        "id": "chr4:g.5618540T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190540235",
        "rs": 190540235
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5620267-T-C?dataset=gnomad_r2_1",
        "id": "4-5620267-T-C",
        "variant": "4:5620267 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5618540-T-C?dataset=gnomad_r3",
        "id": "4-5618540-T-C",
        "variant": "4:5618540 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5618540-T-C?dataset=gnomad_r4",
        "id": "4-5618540-T-C",
        "variant": "4:5618540 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5618540,
          "referenceAllele": "T",
          "start": 5618539
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5618540T>C",
        "CM000666.2:g.5618540T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5620267,
          "referenceAllele": "T",
          "start": 5620266
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5620267T>C",
        "CM000666.1:g.5620267T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 5671168,
          "referenceAllele": "T",
          "start": 5671167
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5671168T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96009,
          "referenceAllele": "A",
          "start": 96008
        }
      ],
      "hgvs": [
        "NG_015821.1:g.96009A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2690,
          "referenceAllele": "A",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.10:c.2644A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Thr882Ala",
        "hgvsWellDefined": "ENSP00000342144.5:p.Thr882Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.2644A>G"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.2644A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Thr882Ala"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Thr882Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "A",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000310917.6:c.2404A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311683.2:p.Thr802Ala",
        "hgvsWellDefined": "ENSP00000311683.2:p.Thr802Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2698,
          "referenceAllele": "A",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000344408.9:c.2644A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342144.5:p.Thr882Ala",
        "hgvsWellDefined": "ENSP00000342144.5:p.Thr882Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "A",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000475313.5:c.2404A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431981.1:p.Thr802Ala",
        "hgvsWellDefined": "ENSP00000431981.1:p.Thr802Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2737,
          "referenceAllele": "A",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "ENST00000509670.1:c.*1037A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423876.1:n.*1037A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025634",
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "A",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.1:c.2404A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Thr802Ala",
        "hgvsWellDefined": "NP_001159608.1:p.Thr802Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645501952",
      "coordinates": [
        {
          "allele": "G",
          "end": 2698,
          "referenceAllele": "A",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.4:c.2644A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Thr882Ala",
        "hgvsWellDefined": "NP_667338.3:p.Thr882Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2706,
          "referenceAllele": "A",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513392.1:c.2653A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511694.1:p.Thr885Ala",
        "hgvsWellDefined": "XP_011511694.1:p.Thr885Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2706,
          "referenceAllele": "A",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513393.1:c.2653A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511695.1:p.Thr885Ala",
        "hgvsWellDefined": "XP_011511695.1:p.Thr885Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_011513394.1:c.2413A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511696.1:p.Thr805Ala",
        "hgvsWellDefined": "XP_011511696.1:p.Thr805Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "referenceAllele": "A",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007736.1:c.2404A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863225.1:p.Thr802Ala",
        "hgvsWellDefined": "XP_016863225.1:p.Thr802Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2574,
          "referenceAllele": "A",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007737.1:c.2404A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863226.1:p.Thr802Ala",
        "hgvsWellDefined": "XP_016863226.1:p.Thr802Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007738.1:c.2644A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863227.1:p.Thr882Ala",
        "hgvsWellDefined": "XP_016863227.1:p.Thr882Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2732,
          "referenceAllele": "A",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.964A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:p.Thr322Ala",
        "hgvsWellDefined": "XP_016863228.1:p.Thr322Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2484,
          "referenceAllele": "A",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.964A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:p.Thr322Ala",
        "hgvsWellDefined": "XP_024309661.1:p.Thr322Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.2709A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645501952",
      "coordinates": [
        {
          "allele": "G",
          "end": 2690,
          "referenceAllele": "A",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.2644A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Thr882Ala",
        "hgvsWellDefined": "NP_667338.3:p.Thr882Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.2644A>G"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.2644A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Thr882Ala"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Thr882Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826025634",
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "A",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.2404A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Thr802Ala",
        "hgvsWellDefined": "NP_001159608.1:p.Thr802Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}