{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348401707", "communityStandardTitle": [ "NM_000312.4(PROC):c.667A>C (p.Ser223Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.128183792A>C?assembly=hg19", "id": "chr2:g.128183792A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.127426216A>C?assembly=hg38", "id": "chr2:g.127426216A>C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 127426216, "referenceAllele": "A", "start": 127426215 } ], "hgvs": [ "NC_000002.12:g.127426216A>C", "CM000664.2:g.127426216A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 128183792, "referenceAllele": "A", "start": 128183791 } ], "hgvs": [ "NC_000002.11:g.128183792A>C", "CM000664.1:g.128183792A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 127900262, "referenceAllele": "A", "start": 127900261 } ], "hgvs": [ "NC_000002.10:g.127900262A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "C", "end": 12797, "referenceAllele": "A", "start": 12796 } ], "hgvs": [ "NG_016323.1:g.12797A>C", "LRG_599:g.12797A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003093" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 754, "referenceAllele": "A", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000234071.8:c.667A>C" ], "proteinEffect": { "hgvs": "ENSP00000234071.4:p.Ser223Arg", "hgvsWellDefined": "ENSP00000234071.4:p.Ser223Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS740940", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234071.8:c.667A>C" }, "RefSeq": { "hgvs": "NM_000312.4:c.667A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234071.4:p.Ser223Arg" }, "RefSeq": { "hgvs": "NP_000303.1:p.Ser223Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 754, "referenceAllele": "A", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000234071.7:c.667A>C" ], "proteinEffect": { "hgvs": "ENSP00000234071.3:p.Ser223Arg", "hgvsWellDefined": "ENSP00000234071.3:p.Ser223Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS248899" }, { "coordinates": [ { "allele": "C", "end": 120, "endIntronDirection": "-", "endIntronOffset": 2140, "referenceAllele": "A", "start": 120, "startIntronDirection": "-", "startIntronOffset": 2141 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000402125.2:c.121-2141A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS279415" }, { "coordinates": [ { "allele": "C", "end": 830, "referenceAllele": "A", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000409048.1:c.769A>C" ], "proteinEffect": { "hgvs": "ENSP00000386679.1:p.Ser257Arg", "hgvsWellDefined": "ENSP00000386679.1:p.Ser257Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281212" }, { "coordinates": [ { "allele": "C", "end": 253, "referenceAllele": "A", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000464089.1:n.253A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS307992" }, { "@id": "http://reg.genome.network/allele/PA3066578721", "coordinates": [ { "allele": "C", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_000312.3:c.667A>C", "LRG_599t1:c.667A>C" ], "proteinEffect": { "hgvs": "NP_000303.1:p.Ser223Arg", "hgvsWellDefined": "NP_000303.1:p.Ser223Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006374" }, { "coordinates": [ { "allele": "C", "end": 864, "referenceAllele": "A", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263715.3:c.850A>C" ], "proteinEffect": { "hgvs": "XP_005263772.1:p.Ser284Arg", "hgvsWellDefined": "XP_005263772.1:p.Ser284Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063924" }, { "coordinates": [ { "allele": "C", "end": 874, "referenceAllele": "A", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263716.3:c.832A>C" ], "proteinEffect": { "hgvs": "XP_005263773.1:p.Ser278Arg", "hgvsWellDefined": "XP_005263773.1:p.Ser278Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063925" }, { "coordinates": [ { "allele": "C", "end": 757, "referenceAllele": "A", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263717.3:c.730A>C" ], "proteinEffect": { "hgvs": "XP_005263774.1:p.Ser244Arg", "hgvsWellDefined": "XP_005263774.1:p.Ser244Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS063926" }, { "coordinates": [ { "allele": "C", "end": 757, "referenceAllele": "A", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263717.4:c.730A>C" ], "proteinEffect": { "hgvs": "XP_005263774.1:p.Ser244Arg", "hgvsWellDefined": "XP_005263774.1:p.Ser244Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535743" }, { "coordinates": [ { "allele": "C", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_017004505.1:c.910A>C" ], "proteinEffect": { "hgvs": "XP_016859994.1:p.Ser304Arg", "hgvsWellDefined": "XP_016859994.1:p.Ser304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559993" }, { "coordinates": [ { "allele": "C", "end": 1105, "referenceAllele": "A", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453002.1:c.1012A>C" ], "proteinEffect": { "hgvs": "XP_024308770.1:p.Ser338Arg", "hgvsWellDefined": "XP_024308770.1:p.Ser338Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586389" }, { "coordinates": [ { "allele": "C", "end": 1007, "referenceAllele": "A", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453003.1:c.952A>C" ], "proteinEffect": { "hgvs": "XP_024308771.1:p.Ser318Arg", "hgvsWellDefined": "XP_024308771.1:p.Ser318Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586390" }, { "coordinates": [ { "allele": "C", "end": 905, "referenceAllele": "A", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453004.1:c.850A>C" ], "proteinEffect": { "hgvs": "XP_024308772.1:p.Ser284Arg", "hgvsWellDefined": "XP_024308772.1:p.Ser284Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586391" }, { "coordinates": [ { "allele": "C", "end": 876, "referenceAllele": "A", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453005.1:c.832A>C" ], "proteinEffect": { "hgvs": "XP_024308773.1:p.Ser278Arg", "hgvsWellDefined": "XP_024308773.1:p.Ser278Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586392" }, { "coordinates": [ { "allele": "C", "end": 857, "referenceAllele": "A", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453006.1:c.769A>C" ], "proteinEffect": { "hgvs": "XP_024308774.1:p.Ser257Arg", "hgvsWellDefined": "XP_024308774.1:p.Ser257Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586393" }, { "coordinates": [ { "allele": "G", "end": 4369, "referenceAllele": "T", "start": 4368 } ], "hgvs": [ "XR_923313.2:n.4369T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS607340" }, { "@id": "http://reg.genome.network/allele/PA3066578721", "coordinates": [ { "allele": "C", "end": 754, "referenceAllele": "A", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_000312.4:c.667A>C" ], "proteinEffect": { "hgvs": "NP_000303.1:p.Ser223Arg", "hgvsWellDefined": "NP_000303.1:p.Ser223Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234071.8:c.667A>C" }, "RefSeq": { "hgvs": "NM_000312.4:c.667A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234071.4:p.Ser223Arg" }, "RefSeq": { "hgvs": "NP_000303.1:p.Ser223Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 870, "referenceAllele": "A", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375602.1:c.850A>C" ], "proteinEffect": { "hgvs": "NP_001362531.1:p.Ser284Arg", "hgvsWellDefined": "NP_001362531.1:p.Ser284Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693696" }, { "coordinates": [ { "allele": "C", "end": 852, "referenceAllele": "A", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375603.1:c.832A>C" ], "proteinEffect": { "hgvs": "NP_001362532.1:p.Ser278Arg", "hgvsWellDefined": "NP_001362532.1:p.Ser278Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693697" }, { "coordinates": [ { "allele": "C", "end": 750, "referenceAllele": "A", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375604.1:c.730A>C" ], "proteinEffect": { "hgvs": "NP_001362533.1:p.Ser244Arg", "hgvsWellDefined": "NP_001362533.1:p.Ser244Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693698" }, { "coordinates": [ { "allele": "C", "end": 856, "referenceAllele": "A", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375605.1:c.769A>C" ], "proteinEffect": { "hgvs": "NP_001362534.1:p.Ser257Arg", "hgvsWellDefined": "NP_001362534.1:p.Ser257Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693699" }, { "coordinates": [ { "allele": "C", "end": 855, "referenceAllele": "A", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375606.1:c.835A>C" ], "proteinEffect": { "hgvs": "NP_001362535.1:p.Ser279Arg", "hgvsWellDefined": "NP_001362535.1:p.Ser279Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693700" }, { "coordinates": [ { "allele": "C", "end": 873, "referenceAllele": "A", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375607.1:c.853A>C" ], "proteinEffect": { "hgvs": "NP_001362536.1:p.Ser285Arg", "hgvsWellDefined": "NP_001362536.1:p.Ser285Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693701" }, { "coordinates": [ { "allele": "C", "end": 697, "referenceAllele": "A", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375608.1:c.610A>C" ], "proteinEffect": { "hgvs": "NP_001362537.1:p.Ser204Arg", "hgvsWellDefined": "NP_001362537.1:p.Ser204Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693702" }, { "coordinates": [ { "allele": "C", "end": 663, "referenceAllele": "A", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375609.1:c.643A>C" ], "proteinEffect": { "hgvs": "NP_001362538.1:p.Ser215Arg", "hgvsWellDefined": "NP_001362538.1:p.Ser215Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693703" }, { "coordinates": [ { "allele": "C", "end": 748, "referenceAllele": "A", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375610.1:c.661A>C" ], "proteinEffect": { "hgvs": "NP_001362539.1:p.Ser221Arg", "hgvsWellDefined": "NP_001362539.1:p.Ser221Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693704" }, { "coordinates": [ { "allele": "C", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375611.1:c.667A>C" ], "proteinEffect": { "hgvs": "NP_001362540.1:p.Ser223Arg", "hgvsWellDefined": "NP_001362540.1:p.Ser223Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693705" }, { "coordinates": [ { "allele": "C", "end": 913, "referenceAllele": "A", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375613.1:c.667A>C" ], "proteinEffect": { "hgvs": "NP_001362542.1:p.Ser223Arg", "hgvsWellDefined": "NP_001362542.1:p.Ser223Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693707" } ], "type": "nucleotide" }