Canonical Allele Identifier: CA2795864102

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977469_47977472del , CM000674.2:g.47977469_47977472del	GRCh38
NC_000012.11:g.48371252_48371255del , CM000674.1:g.48371252_48371255del	GRCh37
NC_000012.10:g.46657519_46657522del	NCBI36
NG_008072.1:g.32031_32034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2959-45_2959-42del	ENSP00000338213.6:n.2959-45_2959-42del
ENST00000380518.8:c.3166-45_3166-42del MANE Select	ENSP00000369889.3:n.3166-45_3166-42del
ENST00000337299.6:c.2959-45_2959-42del	ENSP00000338213.6:n.2959-45_2959-42del
ENST00000380518.7:c.3166-45_3166-42del	ENSP00000369889.3:n.3166-45_3166-42del
ENST00000493991.5:n.2252-45_2252-42del
NM_001844.4:c.3166-45_3166-42del	NP_001835.3:n.3166-45_3166-42del
NM_033150.2:c.2959-45_2959-42del	NP_149162.2:n.2959-45_2959-42del
XM_006719242.2:c.3310-45_3310-42del	XP_006719305.2:n.3310-45_3310-42del
XM_011537928.1:c.3310-45_3310-42del	XP_011536230.1:n.3310-45_3310-42del
XM_011537929.1:c.3310-45_3310-42del	XP_011536231.1:n.3310-45_3310-42del
XM_011537930.1:c.3310-45_3310-42del	XP_011536232.1:n.3310-45_3310-42del
XM_011537931.1:c.3310-45_3310-42del	XP_011536233.1:n.3310-45_3310-42del
XM_011537932.1:c.3310-45_3310-42del	XP_011536234.1:n.3310-45_3310-42del
XM_011537933.1:c.3310-45_3310-42del	XP_011536235.1:n.3310-45_3310-42del
XM_011537934.1:c.3307-45_3307-42del	XP_011536236.1:n.3307-45_3307-42del
XM_011537935.1:c.2254-45_2254-42del	XP_011536237.1:n.2254-45_2254-42del
XM_017018828.1:c.3310-45_3310-42del	XP_016874317.1:n.3310-45_3310-42del
XM_017018829.1:c.3307-45_3307-42del	XP_016874318.1:n.3307-45_3307-42del
XM_017018830.1:c.3100-45_3100-42del	XP_016874319.1:n.3100-45_3100-42del
XM_017018831.2:c.2620-45_2620-42del	XP_016874320.1:n.2620-45_2620-42del
NM_001844.5:c.3166-45_3166-42del MANE Select	NP_001835.3:n.3166-45_3166-42del
NM_033150.3:c.2959-45_2959-42del	NP_149162.2:n.2959-45_2959-42del