Canonical Allele Identifier: CA2034448472

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981781C= , CM000674.2:g.47981781C=	GRCh38
NC_000012.11:g.48375564C= , CM000674.1:g.48375564C=	GRCh37
NC_000012.10:g.46661831C=	NCBI36
NG_008072.1:g.27722G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2197G=	ENSP00000338213.6:p.Glu733=
ENST00000380518.8:c.2404G= MANE Select	ENSP00000369889.3:p.Glu802=
ENST00000337299.6:c.2197G=	ENSP00000338213.6:p.Glu733=
ENST00000380518.7:c.2404G=	ENSP00000369889.3:p.Glu802=
ENST00000483376.1:n.582G=
ENST00000493991.5:n.1490G=
NM_001844.4:c.2404G=	NP_001835.3:p.Glu802=
NM_033150.2:c.2197G=	NP_149162.2:p.Glu733=
XM_006719242.2:c.2548G=	XP_006719305.2:p.Glu850=
XM_011537928.1:c.2548G=	XP_011536230.1:p.Glu850=
XM_011537929.1:c.2548G=	XP_011536231.1:p.Glu850=
XM_011537930.1:c.2548G=	XP_011536232.1:p.Glu850=
XM_011537931.1:c.2548G=	XP_011536233.1:p.Glu850=
XM_011537932.1:c.2548G=	XP_011536234.1:p.Glu850=
XM_011537933.1:c.2548G=	XP_011536235.1:p.Glu850=
XM_011537934.1:c.2545G=	XP_011536236.1:p.Glu849=
XM_011537935.1:c.1492G=	XP_011536237.1:p.Glu498=
XR_944910.1:n.208+355C=
XM_017018828.1:c.2548G=	XP_016874317.1:p.Glu850=
XM_017018829.1:c.2545G=	XP_016874318.1:p.Glu849=
XM_017018830.1:c.2338G=	XP_016874319.1:p.Glu780=
XM_017018831.2:c.1858G=	XP_016874320.1:p.Glu620=
NM_001844.5:c.2404G= MANE Select	NP_001835.3:p.Glu802=
NM_033150.3:c.2197G=	NP_149162.2:p.Glu733=