Canonical Allele Identifier: CA2795864225

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977696_47977698del , CM000674.2:g.47977696_47977698del	GRCh38
NC_000012.11:g.48371479_48371481del , CM000674.1:g.48371479_48371481del	GRCh37
NC_000012.10:g.46657746_46657748del	NCBI36
NG_008072.1:g.31805_31807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2905-45_2905-43del	ENSP00000338213.6:n.2905-45_2905-43del
ENST00000380518.8:c.3112-45_3112-43del MANE Select	ENSP00000369889.3:n.3112-45_3112-43del
ENST00000337299.6:c.2905-45_2905-43del	ENSP00000338213.6:n.2905-45_2905-43del
ENST00000380518.7:c.3112-45_3112-43del	ENSP00000369889.3:n.3112-45_3112-43del
ENST00000493991.5:n.2198-45_2198-43del
NM_001844.4:c.3112-45_3112-43del	NP_001835.3:n.3112-45_3112-43del
NM_033150.2:c.2905-45_2905-43del	NP_149162.2:n.2905-45_2905-43del
XM_006719242.2:c.3256-45_3256-43del	XP_006719305.2:n.3256-45_3256-43del
XM_011537928.1:c.3256-45_3256-43del	XP_011536230.1:n.3256-45_3256-43del
XM_011537929.1:c.3256-45_3256-43del	XP_011536231.1:n.3256-45_3256-43del
XM_011537930.1:c.3256-45_3256-43del	XP_011536232.1:n.3256-45_3256-43del
XM_011537931.1:c.3256-45_3256-43del	XP_011536233.1:n.3256-45_3256-43del
XM_011537932.1:c.3256-45_3256-43del	XP_011536234.1:n.3256-45_3256-43del
XM_011537933.1:c.3256-45_3256-43del	XP_011536235.1:n.3256-45_3256-43del
XM_011537934.1:c.3253-45_3253-43del	XP_011536236.1:n.3253-45_3253-43del
XM_011537935.1:c.2200-45_2200-43del	XP_011536237.1:n.2200-45_2200-43del
XM_017018828.1:c.3256-45_3256-43del	XP_016874317.1:n.3256-45_3256-43del
XM_017018829.1:c.3253-45_3253-43del	XP_016874318.1:n.3253-45_3253-43del
XM_017018830.1:c.3046-45_3046-43del	XP_016874319.1:n.3046-45_3046-43del
XM_017018831.2:c.2566-45_2566-43del	XP_016874320.1:n.2566-45_2566-43del
NM_001844.5:c.3112-45_3112-43del MANE Select	NP_001835.3:n.3112-45_3112-43del
NM_033150.3:c.2905-45_2905-43del	NP_149162.2:n.2905-45_2905-43del