{{Rsnum
|rsid=121912942
|Chromosome=21
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL6A2
|position=46126535
|Gene_s=COL6A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120240
|rsnum=121912942
|variant=0011
}}{{ClinVar
|rsid=121912942
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=47546449
|CHROM=21
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL6A2:1292
|GENE_NAME=COL6A2
|GENE_ID=1292
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.47546449C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120240.0011
|CLNSIG=5
|CLNCUI=C1850671
|CLNDBN=Myosclerosis, autosomal recessive; BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
|Disease=Myosclerosis; BETHLEM MYOPATHY
|CLNACC=RCV000018705.22; RCV000022487.26
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1850671:255600:289380
}}