{
  "meta": {
    "data_length": 1,
    "message": "Biomarker id bmkr:145 retrieved successfully",
    "request_url": "http://api.moalmanac.org/biomarkers?biomarker_id=bmkr%3A145",
    "status": "success",
    "status_code": 200,
    "timestamp_elapsed": 0.001561,
    "timestamp_received": "2026-09-25T00:13:27.810453+00:00Z",
    "timestamp_returned": "2026-09-25T00:13:27.812014+00:00Z",
    "trace_id": "952e849d-5d8d-47f3-a9f5-31475b03f998"
  },
  "service": {
    "github": "https://github.com/vanallenlab/moalmanac-db",
    "name": "Molecular Oncology Almanac",
    "license": "GPL-2.0",
    "release": "draft",
    "url": "https://dev.moalmanac.org",
    "last_updated": "2026-08-02"
  },
  "data": [
    {
      "id": "bmkr:145",
      "type": "CategoricalVariant",
      "name": "EZH2 p.Y646N",
      "constraints": [
        {
          "type": "DefiningAlleleConstraint",
          "allele": {
            "id": "ga4gh:VA.F3wf8X4pXaRvx55F_jvVkK258q-JoDni",
            "type": "Allele",
            "name": "NP_004447.2:p.Tyr646Asn",
            "aliases": [
              "NP_004447.2:p.Y646N",
              "EZH2 p.Y646N"
            ],
            "description": "VRS variation of NP_004447.2:p.Tyr646Asn",
            "digest": "F3wf8X4pXaRvx55F_jvVkK258q-JoDni",
            "expressions": [
              {
                "syntax": "hgvs.p",
                "value": "NP_004447.2:p.Tyr646Asn",
                "extensions": [
                  {
                    "name": "hgvs.p_short",
                    "value": "p.Y646N"
                  }
                ]
              }
            ],
            "location": {
              "id": "ga4gh:SL.7PJtwRMwSyrWxfU3VBIOb5LbGlGxJs2n",
              "type": "SequenceLocation",
              "name": null,
              "aliases": [],
              "description": "Amino acid position 646 of the Refseq protein NP_004447.2, which is the protein product of the MANE Select coding transcript for EZH2 (refseq:NM_004456.5).",
              "digest": "7PJtwRMwSyrWxfU3VBIOb5LbGlGxJs2n",
              "sequenceReference": {
                "id": "ga4gh:SQ.fZuyp1_QKM5vGWsn-O-CrPHPm5jR403J",
                "type": "SequenceReference",
                "name": "NP_004447.2",
                "aliases": [
                  "ensembl:ENSP00000320147.2",
                  "ga4gh:SQ.fZuyp1_QKM5vGWsn-O-CrPHPm5jR403J",
                  "refseq:NP_004447.2"
                ],
                "description": "The protein product of the MANE Select coding transcript for EZH2 (refseq:NM_004456.5), corresponding to the Refseq protein accession NP_004447.2.",
                "moleculeType": "protein",
                "refgetAccession": "SQ.fZuyp1_QKM5vGWsn-O-CrPHPm5jR403J",
                "residueAlphabet": "aa"
              },
              "start": 645,
              "end": 646,
              "sequence": "Y"
            },
            "state": {
              "type": "LiteralSequenceExpression",
              "sequence": "N"
            }
          },
          "relations": []
        },
        {
          "type": "FeatureContextConstraint",
          "featureContext": {
            "id": "gene:hgnc:3527",
            "conceptType": "Gene",
            "name": "EZH2",
            "primaryCoding": {
              "id": "coding:hgnc:3527",
              "code": "HGNC:3527",
              "system": "https://genenames.org",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3527"
              ]
            },
            "mappings": [
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ensembl:ensg00000106462",
                  "code": "ENSG00000106462",
                  "system": "https://www.ensembl.org",
                  "iris": [
                    "https://www.ensembl.org/id/ENSG00000106462"
                  ]
                }
              },
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ncbi:2146",
                  "code": "2146",
                  "system": "https://www.ncbi.nlm.nih.gov/gene",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/gene/2146"
                  ]
                }
              },
              {
                "relation": "relatedMatch",
                "coding": {
                  "id": "coding:refseq:NM_004456.5",
                  "code": "NM_004456.5",
                  "system": "https://www.ncbi.nlm.nih.gov/nuccore",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/nuccore/NM_004456.5"
                  ]
                }
              }
            ]
          }
        }
      ],
      "extensions": [
        {
          "name": "biomarker_type",
          "value": "Somatic variant"
        },
        {
          "name": "chromosome",
          "value": "7"
        },
        {
          "name": "start_position",
          "value": 148508728
        },
        {
          "name": "end_position",
          "value": 148508728
        },
        {
          "name": "reference_allele",
          "value": "A"
        },
        {
          "name": "alternate_allele",
          "value": "T"
        },
        {
          "name": "cdna_change",
          "value": "c.1936T>A"
        },
        {
          "name": "protein_change",
          "value": "p.Y646N"
        },
        {
          "name": "variant_annotation",
          "value": "Missense"
        },
        {
          "name": "exon",
          "value": "16/20"
        },
        {
          "name": "rsid",
          "value": "rs267601395"
        },
        {
          "name": "hgvsg",
          "value": "7:g.148508728A>T"
        },
        {
          "name": "hgvsc",
          "value": "ENST00000320356.2:c.1936T>A"
        }
      ]
    }
  ]
}