{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1706183", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268214[alleleid]", "alleleId": 268214, "preferredName": "NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283977", "RCV": [ "RCV000271598", "RCV000356959", "RCV000366269", "RCV000695150", "RCV001271793", "RCV002487214" ], "variationId": 283977 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71791255-G-A", "id": "2-71791255-G-A", "variant": "2:71791255 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71791255G>A?assembly=hg19", "id": "chr2:g.71791255G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71564125G>A?assembly=hg38", "id": "chr2:g.71564125G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/35297901", "rs": 35297901 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71791255-G-A?dataset=gnomad_r2_1", "id": "2-71791255-G-A", "variant": "2:71791255 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71564125-G-A?dataset=gnomad_r3", "id": "2-71564125-G-A", "variant": "2:71564125 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71564125-G-A?dataset=gnomad_r4", "id": "2-71564125-G-A", "variant": "2:71564125 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71564125, "referenceAllele": "G", "start": 71564124 } ], "hgvs": [ "NC_000002.12:g.71564125G>A", "CM000664.2:g.71564125G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71791255, "referenceAllele": "G", "start": 71791254 } ], "hgvs": [ "NC_000002.11:g.71791255G>A", "CM000664.1:g.71791255G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71644763, "referenceAllele": "G", "start": 71644762 } ], "hgvs": [ "NC_000002.10:g.71644763G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 115503, "referenceAllele": "G", "start": 115502 } ], "hgvs": [ "NG_008694.1:g.115503G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2861, "referenceAllele": "G", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.2423G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Arg808Gln", "hgvsWellDefined": "ENSP00000258104.3:p.Arg808Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.2423G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.2423G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Arg808Gln" }, "RefSeq": { "hgvs": "NP_003485.1:p.Arg808Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2621, "referenceAllele": "G", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.2477G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Arg826Gln", "hgvsWellDefined": "ENSP00000386881.3:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.2477G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.2477G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Arg826Gln" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Arg826Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.2423G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Arg808Gln", "hgvsWellDefined": "ENSP00000258104.3:p.Arg808Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "A", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.2426G>A" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Arg809Gln", "hgvsWellDefined": "ENSP00000377678.2:p.Arg809Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "A", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.2426G>A" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Arg809Gln", "hgvsWellDefined": "ENSP00000386512.1:p.Arg809Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "G", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.2474G>A" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Arg825Gln", "hgvsWellDefined": "ENSP00000386547.3:p.Arg825Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "A", "end": 2660, "referenceAllele": "G", "start": 2659 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.2519G>A" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Arg840Gln", "hgvsWellDefined": "ENSP00000386683.1:p.Arg840Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "A", "end": 2525, "referenceAllele": "G", "start": 2524 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.2384G>A" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Arg795Gln", "hgvsWellDefined": "ENSP00000386285.1:p.Arg795Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "G", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.2474G>A" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Arg825Gln", "hgvsWellDefined": "ENSP00000387137.1:p.Arg825Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "G", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.2477G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Arg826Gln", "hgvsWellDefined": "ENSP00000386881.3:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "G", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.2477G>A" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Arg826Gln", "hgvsWellDefined": "ENSP00000386617.1:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "A", "end": 2793, "referenceAllele": "G", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.2516G>A" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Arg839Gln", "hgvsWellDefined": "ENSP00000407046.2:p.Arg839Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.2423G>A" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Arg808Gln", "hgvsWellDefined": "ENSP00000398305.2:p.Arg808Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825693872", "coordinates": [ { "allele": "A", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.2426G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Arg809Gln", "hgvsWellDefined": "NP_001123927.1:p.Arg809Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825747524", "coordinates": [ { "allele": "A", "end": 2757, "referenceAllele": "G", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.2381G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Arg794Gln", "hgvsWellDefined": "NP_001124448.1:p.Arg794Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825749785", "coordinates": [ { "allele": "A", "end": 2757, "referenceAllele": "G", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.2381G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Arg794Gln", "hgvsWellDefined": "NP_001124449.1:p.Arg794Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825752053", "coordinates": [ { "allele": "A", "end": 2799, "referenceAllele": "G", "start": 2798 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.2423G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Arg808Gln", "hgvsWellDefined": "NP_001124450.1:p.Arg808Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754328", "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.2516G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Arg839Gln", "hgvsWellDefined": "NP_001124451.1:p.Arg839Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825756590", "coordinates": [ { "allele": "A", "end": 2850, "referenceAllele": "G", "start": 2849 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.2474G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Arg825Gln", "hgvsWellDefined": "NP_001124452.1:p.Arg825Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825758856", "coordinates": [ { "allele": "A", "end": 2850, "referenceAllele": "G", "start": 2849 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.2474G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Arg825Gln", "hgvsWellDefined": "NP_001124453.1:p.Arg825Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915973668", "coordinates": [ { "allele": "A", "end": 2660, "referenceAllele": "G", "start": 2659 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.2519G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Arg840Gln", "hgvsWellDefined": "NP_001124454.1:p.Arg840Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825762763", "coordinates": [ { "allele": "A", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.2426G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Arg809Gln", "hgvsWellDefined": "NP_001124455.1:p.Arg809Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825764987", "coordinates": [ { "allele": "A", "end": 2525, "referenceAllele": "G", "start": 2524 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.2384G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Arg795Gln", "hgvsWellDefined": "NP_001124456.1:p.Arg795Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767228", "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "G", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.2477G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Arg826Gln", "hgvsWellDefined": "NP_001124457.1:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769460", "coordinates": [ { "allele": "A", "end": 2525, "referenceAllele": "G", "start": 2524 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.2384G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Arg795Gln", "hgvsWellDefined": "NP_001124458.1:p.Arg795Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA645477627", "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "G", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.2477G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Arg826Gln", "hgvsWellDefined": "NP_001124459.1:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829466836", "coordinates": [ { "allele": "A", "end": 2799, "referenceAllele": "G", "start": 2798 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.2423G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Arg808Gln", "hgvsWellDefined": "NP_003485.1:p.Arg808Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "A", "end": 2659, "referenceAllele": "G", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.2519G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Arg840Gln", "hgvsWellDefined": "XP_005264641.1:p.Arg840Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "A", "end": 3396, "referenceAllele": "G", "start": 3395 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.2516G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Arg839Gln", "hgvsWellDefined": "XP_005264642.1:p.Arg839Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "A", "end": 2675, "referenceAllele": "G", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.2519G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Arg840Gln", "hgvsWellDefined": "XP_005264641.1:p.Arg840Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "A", "end": 3361, "referenceAllele": "G", "start": 3360 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.2516G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Arg839Gln", "hgvsWellDefined": "XP_005264642.1:p.Arg839Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "A", "end": 2677, "referenceAllele": "G", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.2677G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA645477627", "coordinates": [ { "allele": "A", "end": 2621, "referenceAllele": "G", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.2477G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Arg826Gln", "hgvsWellDefined": "NP_001124459.1:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.2477G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.2477G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Arg826Gln" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Arg826Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825693872", "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "G", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.2426G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Arg809Gln", "hgvsWellDefined": "NP_001123927.1:p.Arg809Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825747524", "coordinates": [ { "allele": "A", "end": 2819, "referenceAllele": "G", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.2381G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Arg794Gln", "hgvsWellDefined": "NP_001124448.1:p.Arg794Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825749785", "coordinates": [ { "allele": "A", "end": 2819, "referenceAllele": "G", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.2381G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Arg794Gln", "hgvsWellDefined": "NP_001124449.1:p.Arg794Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825752053", "coordinates": [ { "allele": "A", "end": 2861, "referenceAllele": "G", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.2423G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Arg808Gln", "hgvsWellDefined": "NP_001124450.1:p.Arg808Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754328", "coordinates": [ { "allele": "A", "end": 2954, "referenceAllele": "G", "start": 2953 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.2516G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Arg839Gln", "hgvsWellDefined": "NP_001124451.1:p.Arg839Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825756590", "coordinates": [ { "allele": "A", "end": 2912, "referenceAllele": "G", "start": 2911 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.2474G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Arg825Gln", "hgvsWellDefined": "NP_001124452.1:p.Arg825Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825758856", "coordinates": [ { "allele": "A", "end": 2912, "referenceAllele": "G", "start": 2911 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.2474G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Arg825Gln", "hgvsWellDefined": "NP_001124453.1:p.Arg825Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915973668", "coordinates": [ { "allele": "A", "end": 2663, "referenceAllele": "G", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.2519G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Arg840Gln", "hgvsWellDefined": "NP_001124454.1:p.Arg840Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825762763", "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "G", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.2426G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Arg809Gln", "hgvsWellDefined": "NP_001124455.1:p.Arg809Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825764987", "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.2384G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Arg795Gln", "hgvsWellDefined": "NP_001124456.1:p.Arg795Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767228", "coordinates": [ { "allele": "A", "end": 2621, "referenceAllele": "G", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.2477G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Arg826Gln", "hgvsWellDefined": "NP_001124457.1:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769460", "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.2384G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Arg795Gln", "hgvsWellDefined": "NP_001124458.1:p.Arg795Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829466836", "coordinates": [ { "allele": "A", "end": 2861, "referenceAllele": "G", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.2423G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Arg808Gln", "hgvsWellDefined": "NP_003485.1:p.Arg808Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.2423G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.2423G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Arg808Gln" }, "RefSeq": { "hgvs": "NP_003485.1:p.Arg808Gln" } } } } ], "type": "nucleotide" }