Canonical Allele Identifier: CA384544227

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47980029G>A , CM000674.2:g.47980029G>A	GRCh38
NC_000012.11:g.48373812G>A , CM000674.1:g.48373812G>A	GRCh37
NC_000012.10:g.46660079G>A	NCBI36
NG_008072.1:g.29474C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.2659C>T MANE Select	NP_001835.3:p.Arg887Ter
ENST00000380518.8:c.2659C>T MANE Select	ENSP00000369889.3:p.Arg887Ter
NM_001844.4:c.2659C>T	NP_001835.3:p.Arg887Ter
NM_033150.2:c.2452C>T	NP_149162.2:p.Arg818Ter
NM_033150.3:c.2452C>T	NP_149162.2:p.Arg818Ter
ENST00000337299.6:c.2452C>T	ENSP00000338213.6:p.Arg818Ter
ENST00000337299.7:c.2452C>T	ENSP00000338213.6:p.Arg818Ter
ENST00000380518.7:c.2659C>T	ENSP00000369889.3:p.Arg887Ter
ENST00000493991.5:n.1745C>T
XM_006719242.2:c.2803C>T	XP_006719305.2:p.Arg935Ter
XM_011537928.1:c.2803C>T	XP_011536230.1:p.Arg935Ter
XM_011537929.1:c.2803C>T	XP_011536231.1:p.Arg935Ter
XM_011537930.1:c.2803C>T	XP_011536232.1:p.Arg935Ter
XM_011537931.1:c.2803C>T	XP_011536233.1:p.Arg935Ter
XM_011537932.1:c.2803C>T	XP_011536234.1:p.Arg935Ter
XM_011537933.1:c.2803C>T	XP_011536235.1:p.Arg935Ter
XM_011537934.1:c.2800C>T	XP_011536236.1:p.Arg934Ter
XM_011537935.1:c.1747C>T	XP_011536237.1:p.Arg583Ter
XM_017018828.1:c.2803C>T	XP_016874317.1:p.Arg935Ter
XM_017018829.1:c.2800C>T	XP_016874318.1:p.Arg934Ter
XM_017018830.1:c.2593C>T	XP_016874319.1:p.Arg865Ter
XM_017018831.2:c.2113C>T	XP_016874320.1:p.Arg705Ter