Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
COL6A2
Alpha 2 type VI collagen




21q22.3
* Bethlem myopathy - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
* LGMDD5 - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
* Ullrich scleroatonic muscular dystrophy - UCMD1 (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
* LGMDR22 - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
* myosclerosis, autosomal recessive - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)