Canonical Allele Identifier: CA2034455620

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985675C= , CM000674.2:g.47985675C=	GRCh38
NC_000012.11:g.48379458C= , CM000674.1:g.48379458C=	GRCh37
NC_000012.10:g.46665725C=	NCBI36
NG_008072.1:g.23828G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1473+53G=	ENSP00000338213.6:n.1473+53G=
ENST00000380518.8:c.1680+53G= MANE Select	ENSP00000369889.3:n.1680+53G=
ENST00000337299.6:c.1473+53G=	ENSP00000338213.6:n.1473+53G=
ENST00000380518.7:c.1680+53G=	ENSP00000369889.3:n.1680+53G=
ENST00000493991.5:n.604+53G=
NM_001844.4:c.1680+53G=	NP_001835.3:n.1680+53G=
NM_033150.2:c.1473+53G=	NP_149162.2:n.1473+53G=
XM_006719242.2:c.1824+53G=	XP_006719305.2:n.1824+53G=
XM_011537928.1:c.1824+53G=	XP_011536230.1:n.1824+53G=
XM_011537929.1:c.1824+53G=	XP_011536231.1:n.1824+53G=
XM_011537930.1:c.1824+53G=	XP_011536232.1:n.1824+53G=
XM_011537931.1:c.1824+53G=	XP_011536233.1:n.1824+53G=
XM_011537932.1:c.1824+53G=	XP_011536234.1:n.1824+53G=
XM_011537933.1:c.1824+53G=	XP_011536235.1:n.1824+53G=
XM_011537934.1:c.1821+53G=	XP_011536236.1:n.1821+53G=
XM_011537935.1:c.768+53G=	XP_011536237.1:n.768+53G=
XM_017018828.1:c.1824+53G=	XP_016874317.1:n.1824+53G=
XM_017018829.1:c.1821+53G=	XP_016874318.1:n.1821+53G=
XM_017018830.1:c.1614+53G=	XP_016874319.1:n.1614+53G=
XM_017018831.2:c.1134+53G=	XP_016874320.1:n.1134+53G=
NM_001844.5:c.1680+53G= MANE Select	NP_001835.3:n.1680+53G=
NM_033150.3:c.1473+53G=	NP_149162.2:n.1473+53G=