Canonical Allele Identifier: CA2795861143

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977761_47977767del , CM000674.2:g.47977761_47977767del	GRCh38
NC_000012.11:g.48371544_48371550del , CM000674.1:g.48371544_48371550del	GRCh37
NC_000012.10:g.46657811_46657817del	NCBI36
NG_008072.1:g.31736_31742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2905-114_2905-108del	ENSP00000338213.6:n.2905-114_2905-108del
ENST00000380518.8:c.3112-114_3112-108del MANE Select	ENSP00000369889.3:n.3112-114_3112-108del
ENST00000337299.6:c.2905-114_2905-108del	ENSP00000338213.6:n.2905-114_2905-108del
ENST00000380518.7:c.3112-114_3112-108del	ENSP00000369889.3:n.3112-114_3112-108del
ENST00000493991.5:n.2198-114_2198-108del
NM_001844.4:c.3112-114_3112-108del	NP_001835.3:n.3112-114_3112-108del
NM_033150.2:c.2905-114_2905-108del	NP_149162.2:n.2905-114_2905-108del
XM_006719242.2:c.3256-114_3256-108del	XP_006719305.2:n.3256-114_3256-108del
XM_011537928.1:c.3256-114_3256-108del	XP_011536230.1:n.3256-114_3256-108del
XM_011537929.1:c.3256-114_3256-108del	XP_011536231.1:n.3256-114_3256-108del
XM_011537930.1:c.3256-114_3256-108del	XP_011536232.1:n.3256-114_3256-108del
XM_011537931.1:c.3256-114_3256-108del	XP_011536233.1:n.3256-114_3256-108del
XM_011537932.1:c.3256-114_3256-108del	XP_011536234.1:n.3256-114_3256-108del
XM_011537933.1:c.3256-114_3256-108del	XP_011536235.1:n.3256-114_3256-108del
XM_011537934.1:c.3253-114_3253-108del	XP_011536236.1:n.3253-114_3253-108del
XM_011537935.1:c.2200-114_2200-108del	XP_011536237.1:n.2200-114_2200-108del
XM_017018828.1:c.3256-114_3256-108del	XP_016874317.1:n.3256-114_3256-108del
XM_017018829.1:c.3253-114_3253-108del	XP_016874318.1:n.3253-114_3253-108del
XM_017018830.1:c.3046-114_3046-108del	XP_016874319.1:n.3046-114_3046-108del
XM_017018831.2:c.2566-114_2566-108del	XP_016874320.1:n.2566-114_2566-108del
NM_001844.5:c.3112-114_3112-108del MANE Select	NP_001835.3:n.3112-114_3112-108del
NM_033150.3:c.2905-114_2905-108del	NP_149162.2:n.2905-114_2905-108del