{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2206695603",
  "communityStandardTitle": [
    "NM_001134407.3(GRIN2A):c.2595+5G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794679",
        "rs": 1064794679
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9768846,
          "referenceAllele": "C",
          "start": 9768845
        }
      ],
      "hgvs": [
        "NC_000016.10:g.9768846C=",
        "CM000678.2:g.9768846C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9862703,
          "referenceAllele": "C",
          "start": 9862702
        }
      ],
      "hgvs": [
        "NC_000016.9:g.9862703C=",
        "CM000678.1:g.9862703C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9770204,
          "referenceAllele": "C",
          "start": 9770203
        }
      ],
      "hgvs": [
        "NC_000016.8:g.9770204C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418909,
          "referenceAllele": "G",
          "start": 418908
        }
      ],
      "hgvs": [
        "NG_011812.1:g.418909G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418909,
          "referenceAllele": "G",
          "start": 418908
        }
      ],
      "hgvs": [
        "NG_011812.2:g.418909G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673563"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3165,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3165,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.4:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.2595+5G="
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.2595+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:n.2595+5G="
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:n.2595+5G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2265,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2265,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.6:c.2124+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.3:n.2124+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2188,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2188,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000636273.2:n.2188+5G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2430,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2430,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000674742.1:c.2124+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502200.1:n.2124+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2809,
          "endIntronDirection": "-",
          "endIntronOffset": 3897,
          "referenceAllele": "G",
          "start": 2809,
          "startIntronDirection": "-",
          "startIntronOffset": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675398.1:c.2357-3898G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502752.1:n.2357-3898G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3143,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3143,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.3:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2905,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2905,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396573.6:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379818.2:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2184,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2184,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396575.6:c.2184+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379820.3:n.2184+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2234,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2234,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000461292.3:n.2234+5G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000463531.1:n.378+5G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2188,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2188,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.5:c.2184+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.2:n.2184+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2624,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2624,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000562109.5:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454998.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2905,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2905,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.4:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3143,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3143,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.2:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2804,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2804,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134408.2:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127880.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2451,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2451,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522456.1:c.2436+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520758.1:n.2436+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2347,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522457.1:c.2337+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520759.1:n.2337+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2405,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2405,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.1:c.2124+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:n.2124+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2549,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2549,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522459.1:c.2124+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520761.1:n.2124+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2545,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2545,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522460.1:c.2124+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520762.1:n.2124+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3515,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3515,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.1:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2389,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2389,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.3:c.2124+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:n.2124+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3079,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3079,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.3:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3016,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023172.1:c.2751+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878661.1:n.2751+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3016,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023173.1:c.2751+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878662.1:n.2751+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3165,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3165,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.3:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.2595+5G="
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.2595+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:n.2595+5G="
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:n.2595+5G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3059,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3059,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.5:c.2595+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:n.2595+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674962"
    }
  ],
  "type": "nucleotide"
}