{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA241938", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5471605", "active": true, "id": "COSM5471605" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5471606", "active": true, "id": "COSM5471606" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192651[alleleid]", "alleleId": 192651, "preferredName": "NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195490", "RCV": [ "RCV000176067", "RCV000675177", "RCV001852168", "RCV003235095", "RCV003468857" ], "variationId": 195490 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71780240-G-A", "id": "2-71780240-G-A", "variant": "2:71780240 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71780240G>A?assembly=hg19", "id": "chr2:g.71780240G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71553110G>A?assembly=hg38", "id": "chr2:g.71553110G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201049092", "rs": 201049092 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71780240-G-A?dataset=gnomad_r2_1", "id": "2-71780240-G-A", "variant": "2:71780240 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71553110-G-A?dataset=gnomad_r4", "id": "2-71553110-G-A", "variant": "2:71553110 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71553110, "referenceAllele": "G", "start": 71553109 } ], "hgvs": [ "NC_000002.12:g.71553110G>A", "CM000664.2:g.71553110G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71780240, "referenceAllele": "G", "start": 71780239 } ], "hgvs": [ "NC_000002.11:g.71780240G>A", "CM000664.1:g.71780240G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71633748, "referenceAllele": "G", "start": 71633747 } ], "hgvs": [ "NC_000002.10:g.71633748G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 104488, "referenceAllele": "G", "start": 104487 } ], "hgvs": [ "NG_008694.1:g.104488G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2290, "referenceAllele": "G", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.1852G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gly618Arg", "hgvsWellDefined": "ENSP00000258104.3:p.Gly618Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.1852G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.1852G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gly618Arg" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gly618Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 2050, "referenceAllele": "G", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.1906G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gly636Arg", "hgvsWellDefined": "ENSP00000386881.3:p.Gly636Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.1906G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.1906G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gly636Arg" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gly636Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 2129, "referenceAllele": "G", "start": 2128 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.1852G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gly618Arg", "hgvsWellDefined": "ENSP00000258104.3:p.Gly618Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "A", "end": 1996, "referenceAllele": "G", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.1855G>A" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Gly619Arg", "hgvsWellDefined": "ENSP00000377678.2:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "A", "end": 1996, "referenceAllele": "G", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.1855G>A" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Gly619Arg", "hgvsWellDefined": "ENSP00000386512.1:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "A", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.1903G>A" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Gly635Arg", "hgvsWellDefined": "ENSP00000386547.3:p.Gly635Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.1948G>A" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Gly650Arg", "hgvsWellDefined": "ENSP00000386683.1:p.Gly650Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "A", "end": 1954, "referenceAllele": "G", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.1813G>A" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Gly605Arg", "hgvsWellDefined": "ENSP00000386285.1:p.Gly605Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "A", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.1903G>A" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Gly635Arg", "hgvsWellDefined": "ENSP00000387137.1:p.Gly635Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "A", "end": 2047, "referenceAllele": "G", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.1906G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gly636Arg", "hgvsWellDefined": "ENSP00000386881.3:p.Gly636Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "A", "end": 2047, "referenceAllele": "G", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.1906G>A" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Gly636Arg", "hgvsWellDefined": "ENSP00000386617.1:p.Gly636Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "A", "end": 2222, "referenceAllele": "G", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.1945G>A" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Gly649Arg", "hgvsWellDefined": "ENSP00000407046.2:p.Gly649Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "A", "end": 2129, "referenceAllele": "G", "start": 2128 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.1852G>A" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Gly618Arg", "hgvsWellDefined": "ENSP00000398305.2:p.Gly618Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825693611", "coordinates": [ { "allele": "A", "end": 1996, "referenceAllele": "G", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.1855G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gly619Arg", "hgvsWellDefined": "NP_001123927.1:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825747335", "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.1810G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gly604Arg", "hgvsWellDefined": "NP_001124448.1:p.Gly604Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825749596", "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.1810G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gly604Arg", "hgvsWellDefined": "NP_001124449.1:p.Gly604Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825751866", "coordinates": [ { "allele": "A", "end": 2228, "referenceAllele": "G", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.1852G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gly618Arg", "hgvsWellDefined": "NP_001124450.1:p.Gly618Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754140", "coordinates": [ { "allele": "A", "end": 2321, "referenceAllele": "G", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.1945G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gly649Arg", "hgvsWellDefined": "NP_001124451.1:p.Gly649Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825756402", "coordinates": [ { "allele": "A", "end": 2279, "referenceAllele": "G", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.1903G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gly635Arg", "hgvsWellDefined": "NP_001124452.1:p.Gly635Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825758668", "coordinates": [ { "allele": "A", "end": 2279, "referenceAllele": "G", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.1903G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gly635Arg", "hgvsWellDefined": "NP_001124453.1:p.Gly635Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915973532", "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.1948G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gly650Arg", "hgvsWellDefined": "NP_001124454.1:p.Gly650Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825762574", "coordinates": [ { "allele": "A", "end": 1996, "referenceAllele": "G", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.1855G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gly619Arg", "hgvsWellDefined": "NP_001124455.1:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825764798", "coordinates": [ { "allele": "A", "end": 1954, "referenceAllele": "G", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.1813G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gly605Arg", "hgvsWellDefined": "NP_001124456.1:p.Gly605Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767039", "coordinates": [ { "allele": "A", "end": 2047, "referenceAllele": "G", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.1906G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gly636Arg", "hgvsWellDefined": "NP_001124457.1:p.Gly636Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769271", "coordinates": [ { "allele": "A", "end": 1954, "referenceAllele": "G", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.1813G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gly605Arg", "hgvsWellDefined": "NP_001124458.1:p.Gly605Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA645477598", "coordinates": [ { "allele": "A", "end": 2047, "referenceAllele": "G", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.1906G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gly636Arg", "hgvsWellDefined": "NP_001124459.1:p.Gly636Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA111002", "coordinates": [ { "allele": "A", "end": 2228, "referenceAllele": "G", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.1852G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gly618Arg", "hgvsWellDefined": "NP_003485.1:p.Gly618Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "A", "end": 2088, "referenceAllele": "G", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.1948G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gly650Arg", "hgvsWellDefined": "XP_005264641.1:p.Gly650Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "A", "end": 2825, "referenceAllele": "G", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.1945G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gly649Arg", "hgvsWellDefined": "XP_005264642.1:p.Gly649Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "G", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.1948G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gly650Arg", "hgvsWellDefined": "XP_005264641.1:p.Gly650Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "A", "end": 2790, "referenceAllele": "G", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.1945G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gly649Arg", "hgvsWellDefined": "XP_005264642.1:p.Gly649Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "A", "end": 2106, "referenceAllele": "G", "start": 2105 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.2106G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA645477598", "coordinates": [ { "allele": "A", "end": 2050, "referenceAllele": "G", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.1906G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gly636Arg", "hgvsWellDefined": "NP_001124459.1:p.Gly636Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.1906G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.1906G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gly636Arg" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gly636Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825693611", "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.1855G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gly619Arg", "hgvsWellDefined": "NP_001123927.1:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825747335", "coordinates": [ { "allele": "A", "end": 2248, "referenceAllele": "G", "start": 2247 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.1810G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gly604Arg", "hgvsWellDefined": "NP_001124448.1:p.Gly604Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825749596", "coordinates": [ { "allele": "A", "end": 2248, "referenceAllele": "G", "start": 2247 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.1810G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gly604Arg", "hgvsWellDefined": "NP_001124449.1:p.Gly604Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825751866", "coordinates": [ { "allele": "A", "end": 2290, "referenceAllele": "G", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.1852G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gly618Arg", "hgvsWellDefined": "NP_001124450.1:p.Gly618Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754140", "coordinates": [ { "allele": "A", "end": 2383, "referenceAllele": "G", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.1945G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gly649Arg", "hgvsWellDefined": "NP_001124451.1:p.Gly649Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825756402", "coordinates": [ { "allele": "A", "end": 2341, "referenceAllele": "G", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.1903G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gly635Arg", "hgvsWellDefined": "NP_001124452.1:p.Gly635Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825758668", "coordinates": [ { "allele": "A", "end": 2341, "referenceAllele": "G", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.1903G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gly635Arg", "hgvsWellDefined": "NP_001124453.1:p.Gly635Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915973532", "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "G", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.1948G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gly650Arg", "hgvsWellDefined": "NP_001124454.1:p.Gly650Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825762574", "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.1855G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gly619Arg", "hgvsWellDefined": "NP_001124455.1:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825764798", "coordinates": [ { "allele": "A", "end": 1957, "referenceAllele": "G", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.1813G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gly605Arg", "hgvsWellDefined": "NP_001124456.1:p.Gly605Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767039", "coordinates": [ { "allele": "A", "end": 2050, "referenceAllele": "G", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.1906G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gly636Arg", "hgvsWellDefined": "NP_001124457.1:p.Gly636Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769271", "coordinates": [ { "allele": "A", "end": 1957, "referenceAllele": "G", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.1813G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gly605Arg", "hgvsWellDefined": "NP_001124458.1:p.Gly605Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA111002", "coordinates": [ { "allele": "A", "end": 2290, "referenceAllele": "G", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.1852G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gly618Arg", "hgvsWellDefined": "NP_003485.1:p.Gly618Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.1852G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.1852G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gly618Arg" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gly618Arg" } } } } ], "type": "nucleotide" }