{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347204115", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2028754[alleleid]", "alleleId": 2028754, "preferredName": "NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1968746", "RCV": [ "RCV002712026" ], "variationId": 1968746 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71730351G>C?assembly=hg19", "id": "chr2:g.71730351G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71503221G>C?assembly=hg38", "id": "chr2:g.71503221G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/780227798", "rs": 780227798 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 71503221, "referenceAllele": "G", "start": 71503220 } ], "hgvs": [ "NC_000002.12:g.71503221G>C", "CM000664.2:g.71503221G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 71730351, "referenceAllele": "G", "start": 71730350 } ], "hgvs": [ "NC_000002.11:g.71730351G>C", "CM000664.1:g.71730351G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 71583859, "referenceAllele": "G", "start": 71583858 } ], "hgvs": [ "NC_000002.10:g.71583859G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "C", "end": 54599, "referenceAllele": "G", "start": 54598 } ], "hgvs": [ "NG_008694.1:g.54599G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.244G>C" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gly82Arg", "hgvsWellDefined": "ENSP00000258104.3:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.244G>C" }, "RefSeq": { "hgvs": "NM_003494.4:c.244G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gly82Arg" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gly82Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.247G>C" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gly83Arg", "hgvsWellDefined": "ENSP00000386881.3:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.247G>C" }, "RefSeq": { "hgvs": "NM_001130987.2:c.247G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gly83Arg" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gly83Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.244G>C" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gly82Arg", "hgvsWellDefined": "ENSP00000258104.3:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.247G>C" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Gly83Arg", "hgvsWellDefined": "ENSP00000377678.2:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.247G>C" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Gly83Arg", "hgvsWellDefined": "ENSP00000386512.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.244G>C" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Gly82Arg", "hgvsWellDefined": "ENSP00000386547.3:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.247G>C" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Gly83Arg", "hgvsWellDefined": "ENSP00000386683.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.247G>C" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Gly83Arg", "hgvsWellDefined": "ENSP00000386285.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.244G>C" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Gly82Arg", "hgvsWellDefined": "ENSP00000387137.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.247G>C" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gly83Arg", "hgvsWellDefined": "ENSP00000386881.3:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.247G>C" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Gly83Arg", "hgvsWellDefined": "ENSP00000386617.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.244G>C" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Gly82Arg", "hgvsWellDefined": "ENSP00000407046.2:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.244G>C" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Gly82Arg", "hgvsWellDefined": "ENSP00000398305.2:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825692761", "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gly83Arg", "hgvsWellDefined": "NP_001123927.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825746779", "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124448.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825749039", "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124449.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825751302", "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124450.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825753567", "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124451.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825755841", "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124452.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825758107", "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124453.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA2825760347", "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124454.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825762004", "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124455.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825764242", "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124456.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825766478", "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124457.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825768715", "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124458.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA1139683763", "coordinates": [ { "allele": "C", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124459.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829465743", "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.244G>C" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gly82Arg", "hgvsWellDefined": "NP_003485.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "C", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.247G>C" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gly83Arg", "hgvsWellDefined": "XP_005264641.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "C", "end": 1124, "referenceAllele": "G", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.244G>C" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gly82Arg", "hgvsWellDefined": "XP_005264642.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "C", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.247G>C" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gly83Arg", "hgvsWellDefined": "XP_005264641.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "C", "end": 1089, "referenceAllele": "G", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.244G>C" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gly82Arg", "hgvsWellDefined": "XP_005264642.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "C", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.405G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA1139683763", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124459.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.247G>C" }, "RefSeq": { "hgvs": "NM_001130987.2:c.247G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gly83Arg" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gly83Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825692761", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gly83Arg", "hgvsWellDefined": "NP_001123927.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825746779", "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124448.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825749039", "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124449.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825751302", "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124450.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825753567", "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124451.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825755841", "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124452.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825758107", "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.244G>C" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gly82Arg", "hgvsWellDefined": "NP_001124453.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA2825760347", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124454.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825762004", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124455.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825764242", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124456.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825766478", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124457.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825768715", "coordinates": [ { "allele": "C", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.247G>C" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gly83Arg", "hgvsWellDefined": "NP_001124458.1:p.Gly83Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829465743", "coordinates": [ { "allele": "C", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.244G>C" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gly82Arg", "hgvsWellDefined": "NP_003485.1:p.Gly82Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.244G>C" }, "RefSeq": { "hgvs": "NM_003494.4:c.244G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gly82Arg" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gly82Arg" } } } } ], "type": "nucleotide" }