{{Rsnum
|rsid=387906609
|Chromosome=21
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL6A2
|position=46117916
|Gene_s=COL6A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=21
|CLNACC=RCV000022491.26
|CLNALLE=1
|CLNDBN=BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
|CLNHGVS=NC_000021.8:g.47537830C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120240.0018
|Disease=BETHLEM MYOPATHY
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=47537830
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=387906609
|GENEINFO=COL6A2:1292
|GENE_ID=1292
|GENE_NAME=COL6A2
}}