{{Rsnum
|rsid=387906610
|Chromosome=21
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL6A2
|position=46132103
|Gene_s=COL6A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=21
|CLNACC=RCV000022492.26
|CLNALLE=1
|CLNDBN=BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
|CLNHGVS=NC_000021.8:g.47552017G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120240.0019
|Disease=BETHLEM MYOPATHY
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=47552017
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=387906610
|GENEINFO=COL6A2:1292
|GENE_ID=1292
|GENE_NAME=COL6A2
}}