{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2167037",
  "communityStandardTitle": [
    "NM_004826.4(ECEL1):c.1907C>T (p.Thr636Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4092394",
        "active": true,
        "id": "COSM4092394"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1862557[alleleid]",
        "alleleId": 1862557,
        "preferredName": "NM_004826.4(ECEL1):c.1907C>T (p.Thr636Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1805546",
        "RCV": [
          "RCV002471964"
        ],
        "variationId": 1805546
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-233346298-G-A",
        "id": "2-233346298-G-A",
        "variant": "2:233346298 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233346298G>A?assembly=hg19",
        "id": "chr2:g.233346298G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232481588G>A?assembly=hg38",
        "id": "chr2:g.232481588G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146580059",
        "rs": 146580059
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233346298-G-A?dataset=gnomad_r2_1",
        "id": "2-233346298-G-A",
        "variant": "2:233346298 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232481588-G-A?dataset=gnomad_r3",
        "id": "2-232481588-G-A",
        "variant": "2:232481588 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232481588-G-A?dataset=gnomad_r4",
        "id": "2-232481588-G-A",
        "variant": "2:232481588 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 232481588,
          "referenceAllele": "G",
          "start": 232481587
        }
      ],
      "hgvs": [
        "NC_000002.12:g.232481588G>A",
        "CM000664.2:g.232481588G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233346298,
          "referenceAllele": "G",
          "start": 233346297
        }
      ],
      "hgvs": [
        "NC_000002.11:g.233346298G>A",
        "CM000664.1:g.233346298G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233054542,
          "referenceAllele": "G",
          "start": 233054541
        }
      ],
      "hgvs": [
        "NC_000002.10:g.233054542G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11272,
          "referenceAllele": "C",
          "start": 11271
        }
      ],
      "hgvs": [
        "NG_034065.1:g.11272C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005725"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.6:c.1907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Thr636Met",
        "hgvsWellDefined": "ENSP00000302051.1:p.Thr636Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745117",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.1907C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.1907C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Thr636Met"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Thr636Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.5:c.1907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Thr636Met",
        "hgvsWellDefined": "ENSP00000302051.1:p.Thr636Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000409941.1:c.1901C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386333.1:p.Thr634Met",
        "hgvsWellDefined": "ENSP00000386333.1:p.Thr634Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000411860.5:c.152C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412683.1:p.Thr51Met",
        "hgvsWellDefined": "ENSP00000412683.1:p.Thr51Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "C",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000482346.1:n.2218C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826788984",
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.1:c.1901C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Thr634Met",
        "hgvsWellDefined": "NP_001277716.1:p.Thr634Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580312102",
      "coordinates": [
        {
          "allele": "T",
          "end": 2149,
          "referenceAllele": "C",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.3:c.1907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Thr636Met",
        "hgvsWellDefined": "NP_004817.2:p.Thr636Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029971"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580312102",
      "coordinates": [
        {
          "allele": "T",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.4:c.1907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Thr636Met",
        "hgvsWellDefined": "NP_004817.2:p.Thr636Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.1907C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.1907C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Thr636Met"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Thr636Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826788984",
      "coordinates": [
        {
          "allele": "T",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.2:c.1901C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Thr634Met",
        "hgvsWellDefined": "NP_001277716.1:p.Thr634Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682769"
    }
  ],
  "type": "nucleotide"
}