{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1140763781", "communityStandardTitle": [ "NM_000447.3(PSEN2):c.364A= (p.Thr122=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63749851", "rs": 63749851 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 226885545, "referenceAllele": "A", "start": 226885544 } ], "hgvs": [ "NC_000001.11:g.226885545A=", "CM000663.2:g.226885545A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 227073246, "referenceAllele": "A", "start": 227073245 } ], "hgvs": [ "NC_000001.10:g.227073246A=", "CM000663.1:g.227073246A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 225139869, "referenceAllele": "A", "start": 225139868 } ], "hgvs": [ "NC_000001.9:g.225139869A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 19974, "referenceAllele": "A", "start": 19973 } ], "hgvs": [ "NG_007381.1:g.19974A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000556" }, { "coordinates": [ { "allele": "A", "end": 20362, "referenceAllele": "A", "start": 20361 } ], "hgvs": [ "NG_007381.2:g.20362A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS733309" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "hgvs": [ "ENST00000366779.6:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000355741.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749850" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "A", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366782.6:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000355746.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749851" }, { "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366783.8:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000355747.3:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749852", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366783.8:c.364A=" }, "RefSeq": { "hgvs": "NM_000447.3:c.364A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355747.3:p.Thr122=" }, "RefSeq": { "hgvs": "NP_000438.2:p.Thr122=" } } } }, { "coordinates": [ { "allele": "A", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000524196.6:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000429036.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS758839" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "A", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000626989.3:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000486498.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762479" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "A", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676467.1:c.*194A=" ], "proteinEffect": { "hgvs": "ENSP00000504294.1:n.*194A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776146" }, { "coordinates": [ { "allele": "A", "end": 616, "referenceAllele": "A", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676747.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000503244.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776421" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676840.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504318.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776512" }, { "coordinates": [ { "allele": "A", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "hgvs": [ "ENST00000676884.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000503200.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776555" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676888.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504483.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776559" }, { "coordinates": [ { "allele": "A", "end": 879, "referenceAllele": "A", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676907.1:c.441A=" ], "proteinEffect": { "hgvs": "ENSP00000504410.1:p.Thr147=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776578" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676945.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504433.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776615" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677065.1:n.925A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS776733" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "A", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677414.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000503116.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777076" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677529.1:n.802A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS777190" }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "A", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677596.1:c.*271A=" ], "proteinEffect": { "hgvs": "ENSP00000503618.1:n.*271A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777254" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677599.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000503673.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777257" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677748.1:n.802A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS777402" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "A", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677880.1:c.-69A=" ], "proteinEffect": { "hgvs": "ENSP00000503121.1:n.-69A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777532" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "A", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678021.1:c.149A=" ], "proteinEffect": { "hgvs": "ENSP00000504674.1:p.His50=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777671" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678233.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504728.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777881" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678320.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000503680.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777968" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678655.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504230.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778295" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678706.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000503659.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778345" }, { "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "A", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678776.1:c.*194A=" ], "proteinEffect": { "hgvs": "ENSP00000504624.1:n.*194A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778414" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678784.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504652.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778422" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678820.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504138.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778458" }, { "coordinates": [ { "allele": "A", "end": 846, "referenceAllele": "A", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678835.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504343.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778473" }, { "coordinates": [ { "allele": "A", "end": 2211, "referenceAllele": "A", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000679088.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504727.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778723" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "A", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000679098.1:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000504303.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778733" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "A", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366782.5:c.463A=" ], "proteinEffect": { "hgvs": "ENSP00000355746.1:p.Thr155=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266019" }, { "coordinates": [ { "allele": "A", "end": 800, "referenceAllele": "A", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366783.7:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000355747.3:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266020" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "A", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000422240.6:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000403737.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS287175" }, { "coordinates": [ { "allele": "A", "end": 327, "endIntronDirection": "-", "endIntronOffset": 2545, "referenceAllele": "A", "start": 327, "startIntronDirection": "-", "startIntronOffset": 2546 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000460775.5:c.-21-2546A=" ], "proteinEffect": { "hgvs": "ENSP00000427912.1:n.-21-2546A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS305440" }, { "coordinates": [ { "allele": "A", "end": 68, "referenceAllele": "A", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000472139.2:c.-69A=" ], "proteinEffect": { "hgvs": "ENSP00000427806.1:n.-69A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS314182" }, { "coordinates": [ { "allele": "A", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000495488.5:c.364A=" ], "proteinEffect": { "hgvs": "ENSP00000429682.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS332176" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "A", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000626989.2:c.463A=" ], "proteinEffect": { "hgvs": "ENSP00000486498.1:p.Thr155=" }, "referenceSequence": "http://reg.genome.network/refseq/RS406825" }, { "@id": "http://reg.genome.network/allele/PA2825177027", "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_000447.2:c.364A=" ], "proteinEffect": { "hgvs": "NP_000438.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006509" }, { "@id": "http://reg.genome.network/allele/PA2829710203", "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_012486.2:c.364A=" ], "proteinEffect": { "hgvs": "NP_036618.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS032632" }, { "coordinates": [ { "allele": "A", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_005273199.2:c.364A=" ], "proteinEffect": { "hgvs": "XP_005273256.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067483" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "A", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_011544236.1:c.-69A=" ], "proteinEffect": { "hgvs": "XP_011542538.1:n.-69A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS111148" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949149.1:n.791A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS142727" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949150.1:n.791A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS142728" }, { "coordinates": [ { "allele": "A", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_005273199.4:c.364A=" ], "proteinEffect": { "hgvs": "XP_005273256.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS537403" }, { "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_017001835.1:c.364A=" ], "proteinEffect": { "hgvs": "XP_016857324.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS557903" }, { "coordinates": [ { "allele": "A", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_017001836.1:c.364A=" ], "proteinEffect": { "hgvs": "XP_016857325.1:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS557904" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737316.2:n.769A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS588086" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737317.2:n.769A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS588087" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737318.2:n.769A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS588088" }, { "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737319.1:n.1112A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS588089" }, { "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737320.1:n.1112A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS588090" }, { "coordinates": [ { "allele": "A", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737321.1:n.604A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS588091" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949149.2:n.769A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS615227" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "A", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949150.3:n.769A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS615228" }, { "@id": "http://reg.genome.network/allele/PA2825177027", "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_000447.3:c.364A=" ], "proteinEffect": { "hgvs": "NP_000438.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662449", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366783.8:c.364A=" }, "RefSeq": { "hgvs": "NM_000447.3:c.364A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355747.3:p.Thr122=" }, "RefSeq": { "hgvs": "NP_000438.2:p.Thr122=" } } } }, { "@id": "http://reg.genome.network/allele/PA2829710203", "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_012486.3:c.364A=" ], "proteinEffect": { "hgvs": "NP_036618.2:p.Thr122=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727881" } ], "type": "nucleotide" }