{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2206732642",
  "communityStandardTitle": [
    "NM_001134407.3(GRIN2A):c.1595G= (p.Gly532=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307961",
        "rs": 1085307961
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9840703,
          "referenceAllele": "C",
          "start": 9840702
        }
      ],
      "hgvs": [
        "NC_000016.10:g.9840703C=",
        "CM000678.2:g.9840703C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9934560,
          "referenceAllele": "C",
          "start": 9934559
        }
      ],
      "hgvs": [
        "NC_000016.9:g.9934560C=",
        "CM000678.1:g.9934560C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9842061,
          "referenceAllele": "C",
          "start": 9842060
        }
      ],
      "hgvs": [
        "NC_000016.8:g.9842061C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347052,
          "referenceAllele": "G",
          "start": 347051
        }
      ],
      "hgvs": [
        "NG_011812.1:g.347052G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347052,
          "referenceAllele": "G",
          "start": 347051
        }
      ],
      "hgvs": [
        "NG_011812.2:g.347052G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673563"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "G",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.4:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.1595G="
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.1595G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Gly532="
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Gly532="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.6:c.1124G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.3:p.Gly375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000636273.2:n.1188G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000674742.1:c.1124G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502200.1:p.Gly375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675189.1:n.2079G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675398.1:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502752.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.3:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396573.6:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379818.2:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396575.6:c.1184G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379820.3:p.Gly395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000461292.3:n.1234G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.5:c.1184G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.2:p.Gly395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1624,
          "referenceAllele": "G",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000562109.5:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454998.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825234728",
      "coordinates": [
        {
          "allele": "G",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.4:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825778683",
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.2:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825779626",
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134408.2:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127880.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522456.1:c.1436G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520758.1:p.Gly479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522457.1:c.1337G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520759.1:p.Gly446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.1:c.1124G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.Gly375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522459.1:c.1124G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520761.1:p.Gly375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1545,
          "referenceAllele": "G",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522460.1:c.1124G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520762.1:p.Gly375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2515,
          "referenceAllele": "G",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.1:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.3:c.1124G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.Gly375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.3:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023172.1:c.1751G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878661.1:p.Gly584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023173.1:c.1751G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878662.1:p.Gly584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825778683",
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "G",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.3:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.1595G="
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.1595G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Gly532="
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Gly532="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825234728",
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.5:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Gly532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674962"
    }
  ],
  "type": "nucleotide"
}