{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA345040641", "communityStandardTitle": [ "NM_000447.3(PSEN2):c.710C>A (p.Ala237Glu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.227076673C>A?assembly=hg19", "id": "chr1:g.227076673C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.226888972C>A?assembly=hg38", "id": "chr1:g.226888972C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200670135", "rs": 200670135 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-226888972-C-A?dataset=gnomad_r4", "id": "1-226888972-C-A", "variant": "1:226888972 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 226888972, "referenceAllele": "C", "start": 226888971 } ], "hgvs": [ "NC_000001.11:g.226888972C>A", "CM000663.2:g.226888972C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 227076673, "referenceAllele": "C", "start": 227076672 } ], "hgvs": [ "NC_000001.10:g.227076673C>A", "CM000663.1:g.227076673C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 225143296, "referenceAllele": "C", "start": 225143295 } ], "hgvs": [ "NC_000001.9:g.225143296C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 23401, "referenceAllele": "C", "start": 23400 } ], "hgvs": [ "NG_007381.1:g.23401C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000556" }, { "coordinates": [ { "allele": "A", "end": 23789, "referenceAllele": "C", "start": 23788 } ], "hgvs": [ "NG_007381.2:g.23789C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS733309" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "hgvs": [ "ENST00000366779.6:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000355741.2:p.Ala237Glu", "hgvsWellDefined": "ENSP00000355741.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS749850" }, { "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366782.6:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000355746.2:p.Ala237Glu", "hgvsWellDefined": "ENSP00000355746.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS749851" }, { "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366783.8:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000355747.3:p.Ala237Glu", "hgvsWellDefined": "ENSP00000355747.3:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS749852", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366783.8:c.710C>A" }, "RefSeq": { "hgvs": "NM_000447.3:c.710C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355747.3:p.Ala237Glu" }, "RefSeq": { "hgvs": "NP_000438.2:p.Ala237Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000524196.6:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000429036.2:p.Ala237Glu", "hgvsWellDefined": "ENSP00000429036.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS758839" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000626989.3:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000486498.2:p.Ala237Glu", "hgvsWellDefined": "ENSP00000486498.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS762479" }, { "coordinates": [ { "allele": "A", "end": 1549, "referenceAllele": "C", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676467.1:c.*540C>A" ], "proteinEffect": { "hgvs": "ENSP00000504294.1:n.*540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776146" }, { "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676747.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000503244.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000503244.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776421" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676840.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504318.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504318.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776512" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "hgvs": [ "ENST00000676884.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000503200.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000503200.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776555" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676888.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504483.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504483.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776559" }, { "coordinates": [ { "allele": "A", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676907.1:c.*289C>A" ], "proteinEffect": { "hgvs": "ENSP00000504410.1:n.*289C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776578" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000676945.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504433.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504433.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776615" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677065.1:n.1271C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776733" }, { "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677414.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000503116.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000503116.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS777076" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677529.1:n.1148C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777190" }, { "coordinates": [ { "allele": "A", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677596.1:c.*617C>A" ], "proteinEffect": { "hgvs": "ENSP00000503618.1:n.*617C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777254" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677599.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000503673.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000503673.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS777257" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677748.1:n.1148C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777402" }, { "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000677880.1:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000503121.1:p.Ala93Glu", "hgvsWellDefined": "ENSP00000503121.1:p.Ala93Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS777532" }, { "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678021.1:c.*333C>A" ], "proteinEffect": { "hgvs": "ENSP00000504674.1:n.*333C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777671" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678233.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504728.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504728.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS777881" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678320.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000503680.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000503680.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS777968" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678655.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504230.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504230.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS778295" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678706.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000503659.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000503659.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS778345" }, { "coordinates": [ { "allele": "A", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678776.1:c.*540C>A" ], "proteinEffect": { "hgvs": "ENSP00000504624.1:n.*540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778414" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678784.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504652.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504652.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS778422" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678820.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504138.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504138.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS778458" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "C", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000678835.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504343.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504343.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS778473" }, { "coordinates": [ { "allele": "A", "end": 2557, "referenceAllele": "C", "start": 2556 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000679088.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504727.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504727.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS778723" }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000679098.1:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000504303.1:p.Ala237Glu", "hgvsWellDefined": "ENSP00000504303.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS778733" }, { "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366782.5:c.809C>A" ], "proteinEffect": { "hgvs": "ENSP00000355746.1:p.Ala270Glu", "hgvsWellDefined": "ENSP00000355746.1:p.Ala270Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS266019" }, { "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000366783.7:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000355747.3:p.Ala237Glu", "hgvsWellDefined": "ENSP00000355747.3:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS266020" }, { "coordinates": [ { "allele": "A", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000422240.6:c.710C>A" ], "proteinEffect": { "hgvs": "ENSP00000403737.2:p.Ala237Glu", "hgvsWellDefined": "ENSP00000403737.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS287175" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000460775.5:c.191C>A" ], "proteinEffect": { "hgvs": "ENSP00000427912.1:p.Ala64Glu", "hgvsWellDefined": "ENSP00000427912.1:p.Ala64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS305440" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000472139.2:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000427806.1:p.Ala93Glu", "hgvsWellDefined": "ENSP00000427806.1:p.Ala93Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS314182" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "ENST00000626989.2:c.809C>A" ], "proteinEffect": { "hgvs": "ENSP00000486498.1:p.Ala270Glu", "hgvsWellDefined": "ENSP00000486498.1:p.Ala270Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS406825" }, { "@id": "http://reg.genome.network/allele/PA3064022718", "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_000447.2:c.710C>A" ], "proteinEffect": { "hgvs": "NP_000438.2:p.Ala237Glu", "hgvsWellDefined": "NP_000438.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006509" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_012486.2:c.710C>A" ], "proteinEffect": { "hgvs": "NP_036618.2:p.Ala237Glu", "hgvsWellDefined": "NP_036618.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS032632" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_005273199.2:c.710C>A" ], "proteinEffect": { "hgvs": "XP_005273256.1:p.Ala237Glu", "hgvsWellDefined": "XP_005273256.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS067483" }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_011544236.1:c.278C>A" ], "proteinEffect": { "hgvs": "XP_011542538.1:p.Ala93Glu", "hgvsWellDefined": "XP_011542538.1:p.Ala93Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS111148" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949149.1:n.1137C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS142727" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949150.1:n.1137C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS142728" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_005273199.4:c.710C>A" ], "proteinEffect": { "hgvs": "XP_005273256.1:p.Ala237Glu", "hgvsWellDefined": "XP_005273256.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS537403" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_017001835.1:c.710C>A" ], "proteinEffect": { "hgvs": "XP_016857324.1:p.Ala237Glu", "hgvsWellDefined": "XP_016857324.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS557903" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XM_017001836.1:c.710C>A" ], "proteinEffect": { "hgvs": "XP_016857325.1:p.Ala237Glu", "hgvsWellDefined": "XP_016857325.1:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS557904" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737316.2:n.1115C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS588086" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737317.2:n.1115C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS588087" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737318.2:n.1115C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS588088" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737319.1:n.1458C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS588089" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737320.1:n.1458C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS588090" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_001737321.1:n.950C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS588091" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949149.2:n.1115C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615227" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "XR_949150.3:n.1115C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615228" }, { "@id": "http://reg.genome.network/allele/PA3064022718", "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_000447.3:c.710C>A" ], "proteinEffect": { "hgvs": "NP_000438.2:p.Ala237Glu", "hgvsWellDefined": "NP_000438.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS662449", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366783.8:c.710C>A" }, "RefSeq": { "hgvs": "NM_000447.3:c.710C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355747.3:p.Ala237Glu" }, "RefSeq": { "hgvs": "NP_000438.2:p.Ala237Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN009509", "geneNCBI_id": 5664, "geneSymbol": "PSEN2", "hgvs": [ "NM_012486.3:c.710C>A" ], "proteinEffect": { "hgvs": "NP_036618.2:p.Ala237Glu", "hgvsWellDefined": "NP_036618.2:p.Ala237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS727881" } ], "type": "nucleotide" }