{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2167634",
  "communityStandardTitle": [
    "NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=719711[alleleid]",
        "alleleId": 719711,
        "preferredName": "NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/707886",
        "RCV": [
          "RCV000879058",
          "RCV003908381"
        ],
        "variationId": 707886
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-233351209-A-G",
        "id": "2-233351209-A-G",
        "variant": "2:233351209 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233351209A>G?assembly=hg19",
        "id": "chr2:g.233351209A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232486499A>G?assembly=hg38",
        "id": "chr2:g.232486499A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/564717204",
        "rs": 564717204
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233351209-A-G?dataset=gnomad_r2_1",
        "id": "2-233351209-A-G",
        "variant": "2:233351209 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232486499-A-G?dataset=gnomad_r3",
        "id": "2-232486499-A-G",
        "variant": "2:232486499 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232486499-A-G?dataset=gnomad_r4",
        "id": "2-232486499-A-G",
        "variant": "2:232486499 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 232486499,
          "referenceAllele": "A",
          "start": 232486498
        }
      ],
      "hgvs": [
        "NC_000002.12:g.232486499A>G",
        "CM000664.2:g.232486499A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 233351209,
          "referenceAllele": "A",
          "start": 233351208
        }
      ],
      "hgvs": [
        "NC_000002.11:g.233351209A>G",
        "CM000664.1:g.233351209A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 233059453,
          "referenceAllele": "A",
          "start": 233059452
        }
      ],
      "hgvs": [
        "NC_000002.10:g.233059453A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6361,
          "referenceAllele": "T",
          "start": 6360
        }
      ],
      "hgvs": [
        "NG_034065.1:g.6361T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005725"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.6:c.155T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Leu52Pro",
        "hgvsWellDefined": "ENSP00000302051.1:p.Leu52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745117",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.155T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.155T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Leu52Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Leu52Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "referenceAllele": "T",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.5:c.155T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Leu52Pro",
        "hgvsWellDefined": "ENSP00000302051.1:p.Leu52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 155,
          "referenceAllele": "T",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000409941.1:c.155T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386333.1:p.Leu52Pro",
        "hgvsWellDefined": "ENSP00000386333.1:p.Leu52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000482346.1:n.359T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826788892",
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "T",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.1:c.155T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Leu52Pro",
        "hgvsWellDefined": "NP_001277716.1:p.Leu52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915981776",
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "T",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.3:c.155T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Leu52Pro",
        "hgvsWellDefined": "NP_004817.2:p.Leu52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029971"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915981776",
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.4:c.155T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Leu52Pro",
        "hgvsWellDefined": "NP_004817.2:p.Leu52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.155T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.155T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Leu52Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Leu52Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826788892",
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.2:c.155T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Leu52Pro",
        "hgvsWellDefined": "NP_001277716.1:p.Leu52Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682769"
    }
  ],
  "type": "nucleotide"
}