Canonical Allele Identifier: CA2034483979

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47999897C= , CM000674.2:g.47999897C=	GRCh38
NC_000012.11:g.48393680C= , CM000674.1:g.48393680C=	GRCh37
NC_000012.10:g.46679947C=	NCBI36
NG_008072.1:g.9606G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.86-1466G=	ENSP00000338213.6:n.86-1466G=
ENST00000380518.8:c.292+22G= MANE Select	ENSP00000369889.3:n.292+22G=
ENST00000490609.2:n.547G=
ENST00000337299.6:c.86-1466G=	ENSP00000338213.6:n.86-1466G=
ENST00000380518.7:c.292+22G=	ENSP00000369889.3:n.292+22G=
ENST00000474996.6:n.530+22G=
ENST00000490609.1:n.479G=
NM_001844.4:c.292+22G=	NP_001835.3:n.292+22G=
NM_033150.2:c.86-1466G=	NP_149162.2:n.86-1466G=
XM_006719242.2:c.436+19G=	XP_006719305.2:n.436+19G=
XM_011537928.1:c.436+19G=	XP_011536230.1:n.436+19G=
XM_011537929.1:c.436+19G=	XP_011536231.1:n.436+19G=
XM_011537930.1:c.436+19G=	XP_011536232.1:n.436+19G=
XM_011537931.1:c.436+19G=	XP_011536233.1:n.436+19G=
XM_011537932.1:c.436+19G=	XP_011536234.1:n.436+19G=
XM_011537933.1:c.436+19G=	XP_011536235.1:n.436+19G=
XM_011537934.1:c.433+22G=	XP_011536236.1:n.433+22G=
XM_017018828.1:c.436+19G=	XP_016874317.1:n.436+19G=
XM_017018829.1:c.433+22G=	XP_016874318.1:n.433+22G=
XM_017018830.1:c.227-1466G=	XP_016874319.1:n.227-1466G=
XM_017018831.2:c.-255+22G=	XP_016874320.1:n.-255+22G=
NM_001844.5:c.292+22G= MANE Select	NP_001835.3:n.292+22G=
NM_033150.3:c.86-1466G=	NP_149162.2:n.86-1466G=