{{Rsnum
|rsid=398122821
|Chromosome=21
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GTCATC)
|geno3=(GTCATC;GTCATC)
|Gene=COL6A2
|position=46125503
|Gene_s=COL6A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=21
|CLNACC=RCV000030599.27
|CLNALLE=1
|CLNDBN=Ullrich congenital muscular dystrophy, autosomal recessive
|CLNHGVS=NC_000021.8:g.47545417_47545422delGTCATC
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120240.0020
|Disease=Ullrich congenital muscular dystrophy
|FwdREF=GTCATC
|GENEINFO=COL6A2:1292
|GENE_ID=1292
|GENE_NAME=COL6A2
|REF=CGTCATC
|RSPOS=47545416
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=DIV
|VP=0x050060000000000002100200
|WGT=0
|dbSNPBuildID=138
|rsid=398122821
}}