{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA145312",
  "communityStandardTitle": [
    "NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94305[alleleid]",
        "alleleId": 94305,
        "preferredName": "NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88728",
        "RCV": [
          "RCV000074387"
        ],
        "variationId": 88728
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.10274267A>G?assembly=hg19",
        "id": "chr16:g.10274267A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.10180410A>G?assembly=hg38",
        "id": "chr16:g.10180410A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397518466",
        "rs": 397518466
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 10180410,
          "referenceAllele": "A",
          "start": 10180409
        }
      ],
      "hgvs": [
        "NC_000016.10:g.10180410A>G",
        "CM000678.2:g.10180410A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 10274267,
          "referenceAllele": "A",
          "start": 10274266
        }
      ],
      "hgvs": [
        "NC_000016.9:g.10274267A>G",
        "CM000678.1:g.10274267A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 10181768,
          "referenceAllele": "A",
          "start": 10181767
        }
      ],
      "hgvs": [
        "NC_000016.8:g.10181768A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7345,
          "referenceAllele": "T",
          "start": 7344
        }
      ],
      "hgvs": [
        "NG_011812.1:g.7345T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7345,
          "referenceAllele": "T",
          "start": 7344
        }
      ],
      "hgvs": [
        "NG_011812.2:g.7345T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673563"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "T",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000332549.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "T",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000636406.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490676.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000490676.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71,
          "referenceAllele": "T",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000637188.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489946.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000489946.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "referenceAllele": "T",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675189.1:n.486T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "referenceAllele": "T",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675398.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502752.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000502752.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000676032.1:n.435T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "T",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000332549.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "T",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396573.6:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379818.2:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000379818.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31,
          "referenceAllele": "T",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000562109.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454998.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000454998.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "referenceAllele": "T",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000566665.1:n.403T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA145313",
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "T",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Met1Thr",
        "hgvsWellDefined": "NP_000824.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825778158",
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "T",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001127879.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975631",
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "T",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134408.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127880.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001127880.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Met1Thr",
        "hgvsWellDefined": "XP_011520763.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "referenceAllele": "T",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Met1Thr",
        "hgvsWellDefined": "XP_011520763.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023172.1:c.158T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878661.1:p.Met53Thr",
        "hgvsWellDefined": "XP_016878661.1:p.Met53Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023173.1:c.158T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878662.1:p.Met53Thr",
        "hgvsWellDefined": "XP_016878662.1:p.Met53Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825778158",
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "T",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001127879.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Met1Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA145313",
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Met1Thr",
        "hgvsWellDefined": "NP_000824.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674962"
    }
  ],
  "type": "nucleotide"
}