{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA242326", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192910[alleleid]", "alleleId": 192910, "preferredName": "NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195749", "RCV": [ "RCV000176395", "RCV000765697", "RCV001085145", "RCV001271790" ], "variationId": 195749 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71789000-G-A", "id": "2-71789000-G-A", "variant": "2:71789000 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71789000G>A?assembly=hg19", "id": "chr2:g.71789000G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71561870G>A?assembly=hg38", "id": "chr2:g.71561870G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/138654170", "rs": 138654170 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71789000-G-A?dataset=gnomad_r2_1", "id": "2-71789000-G-A", "variant": "2:71789000 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71561870-G-A?dataset=gnomad_r3", "id": "2-71561870-G-A", "variant": "2:71561870 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71561870-G-A?dataset=gnomad_r4", "id": "2-71561870-G-A", "variant": "2:71561870 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71561870, "referenceAllele": "G", "start": 71561869 } ], "hgvs": [ "NC_000002.12:g.71561870G>A", "CM000664.2:g.71561870G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71789000, "referenceAllele": "G", "start": 71788999 } ], "hgvs": [ "NC_000002.11:g.71789000G>A", "CM000664.1:g.71789000G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71642508, "referenceAllele": "G", "start": 71642507 } ], "hgvs": [ "NC_000002.10:g.71642508G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 113248, "referenceAllele": "G", "start": 113247 } ], "hgvs": [ "NG_008694.1:g.113248G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2719, "referenceAllele": "G", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.2281G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gly761Ser", "hgvsWellDefined": "ENSP00000258104.3:p.Gly761Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.2281G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.2281G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gly761Ser" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gly761Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 2479, "referenceAllele": "G", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.2335G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gly779Ser", "hgvsWellDefined": "ENSP00000386881.3:p.Gly779Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.2335G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.2335G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gly779Ser" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gly779Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 2558, "referenceAllele": "G", "start": 2557 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.2281G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gly761Ser", "hgvsWellDefined": "ENSP00000258104.3:p.Gly761Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "A", "end": 2425, "referenceAllele": "G", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.2284G>A" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Gly762Ser", "hgvsWellDefined": "ENSP00000377678.2:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "A", "end": 2425, "referenceAllele": "G", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.2284G>A" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Gly762Ser", "hgvsWellDefined": "ENSP00000386512.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "A", "end": 2609, "referenceAllele": "G", "start": 2608 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.2332G>A" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Gly778Ser", "hgvsWellDefined": "ENSP00000386547.3:p.Gly778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.2377G>A" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Gly793Ser", "hgvsWellDefined": "ENSP00000386683.1:p.Gly793Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "A", "end": 2383, "referenceAllele": "G", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.2242G>A" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Gly748Ser", "hgvsWellDefined": "ENSP00000386285.1:p.Gly748Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "A", "end": 2609, "referenceAllele": "G", "start": 2608 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.2332G>A" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Gly778Ser", "hgvsWellDefined": "ENSP00000387137.1:p.Gly778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "A", "end": 2476, "referenceAllele": "G", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.2335G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gly779Ser", "hgvsWellDefined": "ENSP00000386881.3:p.Gly779Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "A", "end": 2476, "referenceAllele": "G", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.2335G>A" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Gly779Ser", "hgvsWellDefined": "ENSP00000386617.1:p.Gly779Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "A", "end": 2651, "referenceAllele": "G", "start": 2650 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.2374G>A" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Gly792Ser", "hgvsWellDefined": "ENSP00000407046.2:p.Gly792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "A", "end": 2558, "referenceAllele": "G", "start": 2557 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.2281G>A" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Gly761Ser", "hgvsWellDefined": "ENSP00000398305.2:p.Gly761Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825693812", "coordinates": [ { "allele": "A", "end": 2425, "referenceAllele": "G", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.2284G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gly762Ser", "hgvsWellDefined": "NP_001123927.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825747472", "coordinates": [ { "allele": "A", "end": 2615, "referenceAllele": "G", "start": 2614 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.2239G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gly747Ser", "hgvsWellDefined": "NP_001124448.1:p.Gly747Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825749733", "coordinates": [ { "allele": "A", "end": 2615, "referenceAllele": "G", "start": 2614 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.2239G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gly747Ser", "hgvsWellDefined": "NP_001124449.1:p.Gly747Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825752002", "coordinates": [ { "allele": "A", "end": 2657, "referenceAllele": "G", "start": 2656 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.2281G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gly761Ser", "hgvsWellDefined": "NP_001124450.1:p.Gly761Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754276", "coordinates": [ { "allele": "A", "end": 2750, "referenceAllele": "G", "start": 2749 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.2374G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gly792Ser", "hgvsWellDefined": "NP_001124451.1:p.Gly792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825756539", "coordinates": [ { "allele": "A", "end": 2708, "referenceAllele": "G", "start": 2707 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.2332G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gly778Ser", "hgvsWellDefined": "NP_001124452.1:p.Gly778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825758803", "coordinates": [ { "allele": "A", "end": 2708, "referenceAllele": "G", "start": 2707 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.2332G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gly778Ser", "hgvsWellDefined": "NP_001124453.1:p.Gly778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915973622", "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.2377G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gly793Ser", "hgvsWellDefined": "NP_001124454.1:p.Gly793Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825762711", "coordinates": [ { "allele": "A", "end": 2425, "referenceAllele": "G", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.2284G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gly762Ser", "hgvsWellDefined": "NP_001124455.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825764935", "coordinates": [ { "allele": "A", "end": 2383, "referenceAllele": "G", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.2242G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gly748Ser", "hgvsWellDefined": "NP_001124456.1:p.Gly748Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767175", "coordinates": [ { "allele": "A", "end": 2476, "referenceAllele": "G", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.2335G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gly779Ser", "hgvsWellDefined": "NP_001124457.1:p.Gly779Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769408", "coordinates": [ { "allele": "A", "end": 2383, "referenceAllele": "G", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.2242G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gly748Ser", "hgvsWellDefined": "NP_001124458.1:p.Gly748Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA645477618", "coordinates": [ { "allele": "A", "end": 2476, "referenceAllele": "G", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.2335G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gly779Ser", "hgvsWellDefined": "NP_001124459.1:p.Gly779Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA242327", "coordinates": [ { "allele": "A", "end": 2657, "referenceAllele": "G", "start": 2656 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.2281G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gly761Ser", "hgvsWellDefined": "NP_003485.1:p.Gly761Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "A", "end": 2517, "referenceAllele": "G", "start": 2516 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.2377G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gly793Ser", "hgvsWellDefined": "XP_005264641.1:p.Gly793Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "A", "end": 3254, "referenceAllele": "G", "start": 3253 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.2374G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gly792Ser", "hgvsWellDefined": "XP_005264642.1:p.Gly792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "A", "end": 2533, "referenceAllele": "G", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.2377G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gly793Ser", "hgvsWellDefined": "XP_005264641.1:p.Gly793Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "A", "end": 3219, "referenceAllele": "G", "start": 3218 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.2374G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gly792Ser", "hgvsWellDefined": "XP_005264642.1:p.Gly792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "A", "end": 2535, "referenceAllele": "G", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.2535G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA645477618", "coordinates": [ { "allele": "A", "end": 2479, "referenceAllele": "G", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.2335G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gly779Ser", "hgvsWellDefined": "NP_001124459.1:p.Gly779Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.2335G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.2335G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gly779Ser" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gly779Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825693812", "coordinates": [ { "allele": "A", "end": 2428, "referenceAllele": "G", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.2284G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gly762Ser", "hgvsWellDefined": "NP_001123927.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825747472", "coordinates": [ { "allele": "A", "end": 2677, "referenceAllele": "G", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.2239G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gly747Ser", "hgvsWellDefined": "NP_001124448.1:p.Gly747Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825749733", "coordinates": [ { "allele": "A", "end": 2677, "referenceAllele": "G", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.2239G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gly747Ser", "hgvsWellDefined": "NP_001124449.1:p.Gly747Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825752002", "coordinates": [ { "allele": "A", "end": 2719, "referenceAllele": "G", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.2281G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gly761Ser", "hgvsWellDefined": "NP_001124450.1:p.Gly761Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754276", "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "G", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.2374G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gly792Ser", "hgvsWellDefined": "NP_001124451.1:p.Gly792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825756539", "coordinates": [ { "allele": "A", "end": 2770, "referenceAllele": "G", "start": 2769 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.2332G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gly778Ser", "hgvsWellDefined": "NP_001124452.1:p.Gly778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825758803", "coordinates": [ { "allele": "A", "end": 2770, "referenceAllele": "G", "start": 2769 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.2332G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gly778Ser", "hgvsWellDefined": "NP_001124453.1:p.Gly778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915973622", "coordinates": [ { "allele": "A", "end": 2521, "referenceAllele": "G", "start": 2520 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.2377G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gly793Ser", "hgvsWellDefined": "NP_001124454.1:p.Gly793Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825762711", "coordinates": [ { "allele": "A", "end": 2428, "referenceAllele": "G", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.2284G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gly762Ser", "hgvsWellDefined": "NP_001124455.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825764935", "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "G", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.2242G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gly748Ser", "hgvsWellDefined": "NP_001124456.1:p.Gly748Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767175", "coordinates": [ { "allele": "A", "end": 2479, "referenceAllele": "G", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.2335G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gly779Ser", "hgvsWellDefined": "NP_001124457.1:p.Gly779Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769408", "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "G", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.2242G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gly748Ser", "hgvsWellDefined": "NP_001124458.1:p.Gly748Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA242327", "coordinates": [ { "allele": "A", "end": 2719, "referenceAllele": "G", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.2281G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gly761Ser", "hgvsWellDefined": "NP_003485.1:p.Gly761Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.2281G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.2281G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gly761Ser" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gly761Ser" } } } } ], "type": "nucleotide" }