Canonical Allele Identifier: CA2034477744

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47994041G= , CM000674.2:g.47994041G=	GRCh38
NC_000012.11:g.48387824G= , CM000674.1:g.48387824G=	GRCh37
NC_000012.10:g.46674091G=	NCBI36
NG_008072.1:g.15462C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.823C= MANE Select	NP_001835.3:p.Arg275=
ENST00000380518.8:c.823C= MANE Select	ENSP00000369889.3:p.Arg275=
NM_001844.4:c.823C=	NP_001835.3:p.Arg275=
NM_033150.2:c.616C=	NP_149162.2:p.Arg206=
NM_033150.3:c.616C=	NP_149162.2:p.Arg206=
ENST00000337299.6:c.616C=	ENSP00000338213.6:p.Arg206=
ENST00000337299.7:c.616C=	ENSP00000338213.6:p.Arg206=
ENST00000380518.7:c.823C=	ENSP00000369889.3:p.Arg275=
XM_006719242.2:c.967C=	XP_006719305.2:p.Arg323=
XM_011537928.1:c.967C=	XP_011536230.1:p.Arg323=
XM_011537929.1:c.967C=	XP_011536231.1:p.Arg323=
XM_011537930.1:c.967C=	XP_011536232.1:p.Arg323=
XM_011537931.1:c.967C=	XP_011536233.1:p.Arg323=
XM_011537932.1:c.967C=	XP_011536234.1:p.Arg323=
XM_011537933.1:c.967C=	XP_011536235.1:p.Arg323=
XM_011537934.1:c.964C=	XP_011536236.1:p.Arg322=
XM_017018828.1:c.967C=	XP_016874317.1:p.Arg323=
XM_017018829.1:c.964C=	XP_016874318.1:p.Arg322=
XM_017018830.1:c.757C=	XP_016874319.1:p.Arg253=
XM_017018831.2:c.277C=	XP_016874320.1:p.Arg93=