{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2206729462",
  "communityStandardTitle": [
    "NM_001134407.3(GRIN2A):c.1655C= (p.Pro552=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397518450",
        "rs": 397518450
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 9834227,
          "referenceAllele": "G",
          "start": 9834226
        }
      ],
      "hgvs": [
        "NC_000016.10:g.9834227G=",
        "CM000678.2:g.9834227G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 9928084,
          "referenceAllele": "G",
          "start": 9928083
        }
      ],
      "hgvs": [
        "NC_000016.9:g.9928084G=",
        "CM000678.1:g.9928084G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 9835585,
          "referenceAllele": "G",
          "start": 9835584
        }
      ],
      "hgvs": [
        "NC_000016.8:g.9835585G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 353528,
          "referenceAllele": "C",
          "start": 353527
        }
      ],
      "hgvs": [
        "NG_011812.1:g.353528C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 353528,
          "referenceAllele": "C",
          "start": 353527
        }
      ],
      "hgvs": [
        "NG_011812.2:g.353528C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673563"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "referenceAllele": "C",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.4:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.1655C="
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.1655C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Pro552="
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Pro552="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1325,
          "referenceAllele": "C",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.6:c.1184C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.3:p.Pro395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000636273.2:n.1248C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000674742.1:c.1184C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502200.1:p.Pro395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675189.1:n.2139C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2108,
          "referenceAllele": "C",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675398.1:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502752.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.3:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396573.6:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379818.2:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396575.6:c.1244C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379820.3:p.Pro415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000461292.3:n.1294C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.5:c.1244C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.2:p.Pro415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000562109.5:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454998.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082920509",
      "coordinates": [
        {
          "allele": "C",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.4:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.2:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134408.2:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127880.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522456.1:c.1496C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520758.1:p.Pro499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522457.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520759.1:p.Pro466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.1:c.1184C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.Pro395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522459.1:c.1184C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520761.1:p.Pro395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522460.1:c.1184C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520762.1:p.Pro395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2575,
          "referenceAllele": "C",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.1:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1449,
          "referenceAllele": "C",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.3:c.1184C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.Pro395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.3:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023172.1:c.1811C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878661.1:p.Pro604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023173.1:c.1811C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878662.1:p.Pro604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "referenceAllele": "C",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.3:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.1655C="
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.1655C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Pro552="
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Pro552="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082920509",
      "coordinates": [
        {
          "allele": "C",
          "end": 2119,
          "referenceAllele": "C",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.5:c.1655C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Pro552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674962"
    }
  ],
  "type": "nucleotide"
}