Canonical Allele Identifier: CA2034476694

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978042G= , CM000674.2:g.47978042G=	GRCh38
NC_000012.11:g.48371825G= , CM000674.1:g.48371825G=	GRCh37
NC_000012.10:g.46658092G=	NCBI36
NG_008072.1:g.31461C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2872C=	ENSP00000338213.6:p.Leu958=
ENST00000380518.8:c.3079C= MANE Select	ENSP00000369889.3:p.Leu1027=
ENST00000337299.6:c.2872C=	ENSP00000338213.6:p.Leu958=
ENST00000380518.7:c.3079C=	ENSP00000369889.3:p.Leu1027=
ENST00000493991.5:n.2165C=
NM_001844.4:c.3079C=	NP_001835.3:p.Leu1027=
NM_033150.2:c.2872C=	NP_149162.2:p.Leu958=
XM_006719242.2:c.3223C=	XP_006719305.2:p.Leu1075=
XM_011537928.1:c.3223C=	XP_011536230.1:p.Leu1075=
XM_011537929.1:c.3223C=	XP_011536231.1:p.Leu1075=
XM_011537930.1:c.3223C=	XP_011536232.1:p.Leu1075=
XM_011537931.1:c.3223C=	XP_011536233.1:p.Leu1075=
XM_011537932.1:c.3223C=	XP_011536234.1:p.Leu1075=
XM_011537933.1:c.3223C=	XP_011536235.1:p.Leu1075=
XM_011537934.1:c.3220C=	XP_011536236.1:p.Leu1074=
XM_011537935.1:c.2167C=	XP_011536237.1:p.Leu723=
XM_017018828.1:c.3223C=	XP_016874317.1:p.Leu1075=
XM_017018829.1:c.3220C=	XP_016874318.1:p.Leu1074=
XM_017018830.1:c.3013C=	XP_016874319.1:p.Leu1005=
XM_017018831.2:c.2533C=	XP_016874320.1:p.Leu845=
NM_001844.5:c.3079C= MANE Select	NP_001835.3:p.Leu1027=
NM_033150.3:c.2872C=	NP_149162.2:p.Leu958=