{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA086068", "communityStandardTitle": [ "NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=930396[alleleid]", "alleleId": 930396, "preferredName": "NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/935174", "RCV": [ "RCV001256776", "RCV002484100", "RCV002429871", "RCV003532891", "RCV002561131", "RCV004010632" ], "variationId": 935174 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-237666737-G-A", "id": "1-237666737-G-A", "variant": "1:237666737 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237666737G>A?assembly=hg19", "id": "chr1:g.237666737G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237503437G>A?assembly=hg38", "id": "chr1:g.237503437G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/372569289", "rs": 372569289 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237666737-G-A?dataset=gnomad_r2_1", "id": "1-237666737-G-A", "variant": "1:237666737 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237503437-G-A?dataset=gnomad_r3", "id": "1-237503437-G-A", "variant": "1:237503437 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237503437-G-A?dataset=gnomad_r4", "id": "1-237503437-G-A", "variant": "1:237503437 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237503437, "referenceAllele": "G", "start": 237503436 } ], "hgvs": [ "NC_000001.11:g.237503437G>A", "CM000663.2:g.237503437G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237666737, "referenceAllele": "G", "start": 237666736 } ], "hgvs": [ "NC_000001.10:g.237666737G>A", "CM000663.1:g.237666737G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235733360, "referenceAllele": "G", "start": 235733359 } ], "hgvs": [ "NC_000001.9:g.235733360G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 466036, "referenceAllele": "G", "start": 466035 } ], "hgvs": [ "NG_008799.2:g.466036G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001219" }, { "coordinates": [ { "allele": "A", "end": 466254, "referenceAllele": "G", "start": 466253 } ], "hgvs": [ "NG_008799.3:g.466254G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706088" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2883, "referenceAllele": "G", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000609119.2:c.2545G>A" ], "proteinEffect": { "hgvs": "ENSP00000499659.2:p.Asp849Asn", "hgvsWellDefined": "ENSP00000499659.2:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914356" }, { "coordinates": [ { "allele": "A", "end": 2883, "referenceAllele": "G", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000659194.3:c.2545G>A" ], "proteinEffect": { "hgvs": "ENSP00000499653.3:p.Asp849Asn", "hgvsWellDefined": "ENSP00000499653.3:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914438" }, { "coordinates": [ { "allele": "A", "end": 2883, "referenceAllele": "G", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000660292.2:c.2545G>A" ], "proteinEffect": { "hgvs": "ENSP00000499787.2:p.Asp849Asn", "hgvsWellDefined": "ENSP00000499787.2:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914439" }, { "coordinates": [ { "allele": "A", "end": 2883, "referenceAllele": "G", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.7:c.2545G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Asp849Asn", "hgvsWellDefined": "ENSP00000355533.2:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS749811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.2545G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.2545G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Asp849Asn" }, "RefSeq": { "hgvs": "NP_001026.2:p.Asp849Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 2497, "referenceAllele": "G", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000360064.7:c.2497G>A" ], "proteinEffect": { "hgvs": "ENSP00000353174.7:p.Asp833Asn", "hgvsWellDefined": "ENSP00000353174.7:p.Asp833Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247386" }, { "coordinates": [ { "allele": "A", "end": 2862, "referenceAllele": "G", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.6:c.2545G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Asp849Asn", "hgvsWellDefined": "ENSP00000355533.2:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247208" }, { "@id": "http://reg.genome.network/allele/PA1139669975", "coordinates": [ { "allele": "A", "end": 2665, "referenceAllele": "G", "start": 2664 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.2:c.2545G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Asp849Asn", "hgvsWellDefined": "NP_001026.2:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS009205" }, { "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711865.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069300" }, { "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711866.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069301" }, { "coordinates": [ { "allele": "A", "end": 2785, "referenceAllele": "G", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711867.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069302" }, { "coordinates": [ { "allele": "A", "end": 2781, "referenceAllele": "G", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711868.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069303" }, { "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711869.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069304" }, { "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711870.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069305" }, { "coordinates": [ { "allele": "A", "end": 2784, "referenceAllele": "G", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711871.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069306" }, { "coordinates": [ { "allele": "A", "end": 2829, "referenceAllele": "G", "start": 2828 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711809.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711872.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711872.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069307" }, { "coordinates": [ { "allele": "A", "end": 2785, "referenceAllele": "G", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.2:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711873.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS069308" }, { "coordinates": [ { "allele": "A", "end": 2826, "referenceAllele": "G", "start": 2825 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.1:n.2826G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS142730" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711865.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538080" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711866.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538081" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711867.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538082" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711868.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538083" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711869.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538084" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711870.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538085" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711871.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538086" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.3:c.2545G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Asp849Asn", "hgvsWellDefined": "XP_006711873.1:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS538087" }, { "coordinates": [ { "allele": "A", "end": 2838, "referenceAllele": "G", "start": 2837 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_017002028.1:c.2524G>A" ], "proteinEffect": { "hgvs": "XP_016857517.1:p.Asp842Asn", "hgvsWellDefined": "XP_016857517.1:p.Asp842Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS558067" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_002957299.1:n.2859G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603435" }, { "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "G", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.2:n.2859G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615229" }, { "@id": "http://reg.genome.network/allele/PA1139669975", "coordinates": [ { "allele": "A", "end": 2883, "referenceAllele": "G", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.3:c.2545G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Asp849Asn", "hgvsWellDefined": "NP_001026.2:p.Asp849Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS663078", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.2545G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.2545G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Asp849Asn" }, "RefSeq": { "hgvs": "NP_001026.2:p.Asp849Asn" } } } } ], "type": "nucleotide" }