{{Rsnum
|rsid=267606749
|Chromosome=21
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL6A2
|position=46121590
|Gene_s=COL6A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=21
|CLNACC=RCV000018708.26
|CLNALLE=1
|CLNDBN=Ullrich congenital muscular dystrophy, digenic, col6a1/col6a2
|CLNHGVS=NC_000021.8:g.47541504G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120240.0014
|Disease=Ullrich congenital muscular dystrophy
|FwdALT=A
|FwdREF=G
|GENEINFO=COL6A2:1292
|GENE_ID=1292
|GENE_NAME=COL6A2
|REF=G
|RSPOS=47541504
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606749
}}