{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352536746", "communityStandardTitle": [ "NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3702439", "active": true, "id": "COSM3702439" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3702440", "active": true, "id": "COSM3702440" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676363[alleleid]", "alleleId": 1676363, "preferredName": "NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684434", "RCV": [ "RCV002245440" ], "variationId": 1684434 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.47047527A>G?assembly=hg19", "id": "chr3:g.47047527A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.47006037A>G?assembly=hg38", "id": "chr3:g.47006037A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2107445568", "rs": 2107445568 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-47006037-A-G?dataset=gnomad_r4", "id": "3-47006037-A-G", "variant": "3:47006037 A / G" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 47006037, "referenceAllele": "A", "start": 47006036 } ], "hgvs": [ "NC_000003.12:g.47006037A>G", "CM000665.2:g.47006037A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 47047527, "referenceAllele": "A", "start": 47047526 } ], "hgvs": [ "NC_000003.11:g.47047527A>G", "CM000665.1:g.47047527A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 47022531, "referenceAllele": "A", "start": 47022530 } ], "hgvs": [ "NC_000003.10:g.47022531A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 31355, "referenceAllele": "A", "start": 31354 } ], "hgvs": [ "NG_031914.1:g.31355A>G", "LRG_568:g.31355A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS005025" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 7089, "referenceAllele": "A", "start": 7088 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000450053.8:c.6893A>G" ], "proteinEffect": { "hgvs": "ENSP00000415034.2:p.Asn2298Ser", "hgvsWellDefined": "ENSP00000415034.2:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS756262", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450053.8:c.6893A>G" }, "RefSeq": { "hgvs": "NM_015175.3:c.6893A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415034.2:p.Asn2298Ser" }, "RefSeq": { "hgvs": "NP_055990.1:p.Asn2298Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 153, "referenceAllele": "A", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000651350.1:n.153A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS771618" }, { "coordinates": [ { "allele": "G", "end": 894, "referenceAllele": "A", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000651453.1:n.894A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS771675" }, { "coordinates": [ { "allele": "G", "end": 6849, "referenceAllele": "A", "start": 6848 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000651747.1:c.6791A>G" ], "proteinEffect": { "hgvs": "ENSP00000499216.1:p.Asn2264Ser", "hgvsWellDefined": "ENSP00000499216.1:p.Asn2264Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS771835" }, { "coordinates": [ { "allele": "G", "end": 4756, "referenceAllele": "A", "start": 4755 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000416683.5:c.4756A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS284567" }, { "coordinates": [ { "allele": "G", "end": 374, "referenceAllele": "A", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000423436.1:c.374A>G" ], "proteinEffect": { "hgvs": "ENSP00000415063.1:p.Asn125Ser", "hgvsWellDefined": "ENSP00000415063.1:p.Asn125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS287762" }, { "coordinates": [ { "allele": "G", "end": 1998, "referenceAllele": "A", "start": 1997 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000443829.5:c.1998A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS297530" }, { "coordinates": [ { "allele": "G", "end": 7072, "referenceAllele": "A", "start": 7071 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000450053.7:c.6893A>G" ], "proteinEffect": { "hgvs": "ENSP00000415034.2:p.Asn2298Ser", "hgvsWellDefined": "ENSP00000415034.2:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS300522" }, { "coordinates": [ { "allele": "G", "end": 952, "referenceAllele": "A", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "ENST00000486870.1:n.952A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS325572" }, { "@id": "http://reg.genome.network/allele/PA2573264227", "coordinates": [ { "allele": "G", "end": 7072, "referenceAllele": "A", "start": 7071 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_015175.2:c.6893A>G", "LRG_568t1:c.6893A>G" ], "proteinEffect": { "hgvs": "NP_055990.1:p.Asn2298Ser", "hgvsWellDefined": "NP_055990.1:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS033804" }, { "coordinates": [ { "allele": "G", "end": 6844, "referenceAllele": "A", "start": 6843 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_005264992.2:c.6791A>G" ], "proteinEffect": { "hgvs": "XP_005265049.1:p.Asn2264Ser", "hgvsWellDefined": "XP_005265049.1:p.Asn2264Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS064461" }, { "coordinates": [ { "allele": "G", "end": 3488, "referenceAllele": "A", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_005264993.2:c.3365A>G" ], "proteinEffect": { "hgvs": "XP_005265050.1:p.Asn1122Ser", "hgvsWellDefined": "XP_005265050.1:p.Asn1122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS064462" }, { "coordinates": [ { "allele": "G", "end": 6988, "referenceAllele": "A", "start": 6987 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_006713072.2:c.6812A>G" ], "proteinEffect": { "hgvs": "XP_006713135.1:p.Asn2271Ser", "hgvsWellDefined": "XP_006713135.1:p.Asn2271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS069992" }, { "coordinates": [ { "allele": "G", "end": 6925, "referenceAllele": "A", "start": 6924 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533532.1:c.6872A>G" ], "proteinEffect": { "hgvs": "XP_011531834.1:p.Asn2291Ser", "hgvsWellDefined": "XP_011531834.1:p.Asn2291Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100553" }, { "coordinates": [ { "allele": "G", "end": 7069, "referenceAllele": "A", "start": 7068 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533533.1:c.6893A>G" ], "proteinEffect": { "hgvs": "XP_011531835.1:p.Asn2298Ser", "hgvsWellDefined": "XP_011531835.1:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100554" }, { "coordinates": [ { "allele": "G", "end": 6700, "referenceAllele": "A", "start": 6699 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533534.1:c.6524A>G" ], "proteinEffect": { "hgvs": "XP_011531836.1:p.Asn2175Ser", "hgvsWellDefined": "XP_011531836.1:p.Asn2175Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100555" }, { "coordinates": [ { "allele": "G", "end": 7646, "referenceAllele": "A", "start": 7645 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533535.1:c.6353A>G" ], "proteinEffect": { "hgvs": "XP_011531837.1:p.Asn2118Ser", "hgvsWellDefined": "XP_011531837.1:p.Asn2118Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100556" }, { "coordinates": [ { "allele": "G", "end": 6858, "referenceAllele": "A", "start": 6857 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533536.1:c.6239A>G" ], "proteinEffect": { "hgvs": "XP_011531838.1:p.Asn2080Ser", "hgvsWellDefined": "XP_011531838.1:p.Asn2080Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100557" }, { "coordinates": [ { "allele": "G", "end": 5916, "referenceAllele": "A", "start": 5915 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533537.1:c.5801A>G" ], "proteinEffect": { "hgvs": "XP_011531839.1:p.Asn1934Ser", "hgvsWellDefined": "XP_011531839.1:p.Asn1934Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100558" }, { "coordinates": [ { "allele": "G", "end": 7069, "referenceAllele": "A", "start": 7068 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XR_940397.1:n.7069A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS135093" }, { "@id": "http://reg.genome.network/allele/PA2828167506", "coordinates": [ { "allele": "G", "end": 6849, "referenceAllele": "A", "start": 6848 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_001365116.1:c.6791A>G" ], "proteinEffect": { "hgvs": "NP_001352045.1:p.Asn2264Ser", "hgvsWellDefined": "NP_001352045.1:p.Asn2264Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS524029" }, { "coordinates": [ { "allele": "G", "end": 6988, "referenceAllele": "A", "start": 6987 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_006713072.3:c.6812A>G" ], "proteinEffect": { "hgvs": "XP_006713135.1:p.Asn2271Ser", "hgvsWellDefined": "XP_006713135.1:p.Asn2271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS538422" }, { "coordinates": [ { "allele": "G", "end": 7069, "referenceAllele": "A", "start": 7068 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533533.2:c.6893A>G" ], "proteinEffect": { "hgvs": "XP_011531835.1:p.Asn2298Ser", "hgvsWellDefined": "XP_011531835.1:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS551286" }, { "coordinates": [ { "allele": "G", "end": 7069, "referenceAllele": "A", "start": 7068 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006010.1:c.6893A>G" ], "proteinEffect": { "hgvs": "XP_016861499.1:p.Asn2298Ser", "hgvsWellDefined": "XP_016861499.1:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561134" }, { "coordinates": [ { "allele": "G", "end": 6925, "referenceAllele": "A", "start": 6924 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006011.1:c.6872A>G" ], "proteinEffect": { "hgvs": "XP_016861500.1:p.Asn2291Ser", "hgvsWellDefined": "XP_016861500.1:p.Asn2291Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561135" }, { "coordinates": [ { "allele": "G", "end": 6988, "referenceAllele": "A", "start": 6987 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006012.1:c.6812A>G" ], "proteinEffect": { "hgvs": "XP_016861501.1:p.Asn2271Ser", "hgvsWellDefined": "XP_016861501.1:p.Asn2271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561136" }, { "coordinates": [ { "allele": "G", "end": 7069, "referenceAllele": "A", "start": 7068 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006013.1:c.6893A>G" ], "proteinEffect": { "hgvs": "XP_016861502.1:p.Asn2298Ser", "hgvsWellDefined": "XP_016861502.1:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561137" }, { "coordinates": [ { "allele": "G", "end": 6844, "referenceAllele": "A", "start": 6843 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006014.1:c.6791A>G" ], "proteinEffect": { "hgvs": "XP_016861503.1:p.Asn2264Ser", "hgvsWellDefined": "XP_016861503.1:p.Asn2264Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561138" }, { "coordinates": [ { "allele": "G", "end": 6700, "referenceAllele": "A", "start": 6699 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006015.1:c.6524A>G" ], "proteinEffect": { "hgvs": "XP_016861504.1:p.Asn2175Ser", "hgvsWellDefined": "XP_016861504.1:p.Asn2175Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561139" }, { "coordinates": [ { "allele": "G", "end": 7646, "referenceAllele": "A", "start": 7645 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006016.1:c.6353A>G" ], "proteinEffect": { "hgvs": "XP_016861505.1:p.Asn2118Ser", "hgvsWellDefined": "XP_016861505.1:p.Asn2118Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561140" }, { "coordinates": [ { "allele": "G", "end": 3488, "referenceAllele": "A", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006017.1:c.3365A>G" ], "proteinEffect": { "hgvs": "XP_016861506.1:p.Asn1122Ser", "hgvsWellDefined": "XP_016861506.1:p.Asn1122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS561141" }, { "coordinates": [ { "allele": "G", "end": 7069, "referenceAllele": "A", "start": 7068 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XR_940397.2:n.7069A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS612634" }, { "@id": "http://reg.genome.network/allele/PA2828167506", "coordinates": [ { "allele": "G", "end": 6849, "referenceAllele": "A", "start": 6848 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_001365116.2:c.6791A>G" ], "proteinEffect": { "hgvs": "NP_001352045.1:p.Asn2264Ser", "hgvsWellDefined": "NP_001352045.1:p.Asn2264Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690983" }, { "@id": "http://reg.genome.network/allele/PA2573264227", "coordinates": [ { "allele": "G", "end": 7089, "referenceAllele": "A", "start": 7088 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_015175.3:c.6893A>G" ], "proteinEffect": { "hgvs": "NP_055990.1:p.Asn2298Ser", "hgvsWellDefined": "NP_055990.1:p.Asn2298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS697460", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450053.8:c.6893A>G" }, "RefSeq": { "hgvs": "NM_015175.3:c.6893A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415034.2:p.Asn2298Ser" }, "RefSeq": { "hgvs": "NP_055990.1:p.Asn2298Ser" } } } } ], "type": "nucleotide" }