Canonical Allele Identifier: CA2034448508

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981788A= , CM000674.2:g.47981788A=	GRCh38
NC_000012.11:g.48375571A= , CM000674.1:g.48375571A=	GRCh37
NC_000012.10:g.46661838A=	NCBI36
NG_008072.1:g.27715T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2190T=	ENSP00000338213.6:p.Ala730=
ENST00000380518.8:c.2397T= MANE Select	ENSP00000369889.3:p.Ala799=
ENST00000337299.6:c.2190T=	ENSP00000338213.6:p.Ala730=
ENST00000380518.7:c.2397T=	ENSP00000369889.3:p.Ala799=
ENST00000483376.1:n.575T=
ENST00000493991.5:n.1483T=
NM_001844.4:c.2397T=	NP_001835.3:p.Ala799=
NM_033150.2:c.2190T=	NP_149162.2:p.Ala730=
XM_006719242.2:c.2541T=	XP_006719305.2:p.Ala847=
XM_011537928.1:c.2541T=	XP_011536230.1:p.Ala847=
XM_011537929.1:c.2541T=	XP_011536231.1:p.Ala847=
XM_011537930.1:c.2541T=	XP_011536232.1:p.Ala847=
XM_011537931.1:c.2541T=	XP_011536233.1:p.Ala847=
XM_011537932.1:c.2541T=	XP_011536234.1:p.Ala847=
XM_011537933.1:c.2541T=	XP_011536235.1:p.Ala847=
XM_011537934.1:c.2538T=	XP_011536236.1:p.Ala846=
XM_011537935.1:c.1485T=	XP_011536237.1:p.Ala495=
XR_944910.1:n.208+362A=
XM_017018828.1:c.2541T=	XP_016874317.1:p.Ala847=
XM_017018829.1:c.2538T=	XP_016874318.1:p.Ala846=
XM_017018830.1:c.2331T=	XP_016874319.1:p.Ala777=
XM_017018831.2:c.1851T=	XP_016874320.1:p.Ala617=
NM_001844.5:c.2397T= MANE Select	NP_001835.3:p.Ala799=
NM_033150.3:c.2190T=	NP_149162.2:p.Ala730=