{{Rsnum
|rsid=267606747
|Chromosome=21
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL6A2
|position=46126144
|Gene_s=COL6A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=21
|CLNACC=RCV000018706.26
|CLNALLE=1
|CLNDBN=Ullrich congenital muscular dystrophy, autosomal recessive
|CLNHGVS=NC_000021.8:g.47546058T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120240.0012
|Disease=Ullrich congenital muscular dystrophy
|FwdALT=C
|FwdREF=T
|GENEINFO=COL6A2:1292
|GENE_ID=1292
|GENE_NAME=COL6A2
|REF=T
|RSPOS=47546058
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606747
}}