Canonical Allele Identifier: CA2034476409

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977405G= , CM000674.2:g.47977405G=	GRCh38
NC_000012.11:g.48371188G= , CM000674.1:g.48371188G=	GRCh37
NC_000012.10:g.46657455G=	NCBI36
NG_008072.1:g.32098C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2981C=	ENSP00000338213.6:p.Ala994=
ENST00000380518.8:c.3188C= MANE Select	ENSP00000369889.3:p.Ala1063=
ENST00000337299.6:c.2981C=	ENSP00000338213.6:p.Ala994=
ENST00000380518.7:c.3188C=	ENSP00000369889.3:p.Ala1063=
ENST00000493991.5:n.2274C=
ENST00000546974.1:n.41C=
NM_001844.4:c.3188C=	NP_001835.3:p.Ala1063=
NM_033150.2:c.2981C=	NP_149162.2:p.Ala994=
XM_006719242.2:c.3332C=	XP_006719305.2:p.Ala1111=
XM_011537928.1:c.3332C=	XP_011536230.1:p.Ala1111=
XM_011537929.1:c.3332C=	XP_011536231.1:p.Ala1111=
XM_011537930.1:c.3332C=	XP_011536232.1:p.Ala1111=
XM_011537931.1:c.3332C=	XP_011536233.1:p.Ala1111=
XM_011537932.1:c.3332C=	XP_011536234.1:p.Ala1111=
XM_011537933.1:c.3332C=	XP_011536235.1:p.Ala1111=
XM_011537934.1:c.3329C=	XP_011536236.1:p.Ala1110=
XM_011537935.1:c.2276C=	XP_011536237.1:p.Ala759=
XM_017018828.1:c.3332C=	XP_016874317.1:p.Ala1111=
XM_017018829.1:c.3329C=	XP_016874318.1:p.Ala1110=
XM_017018830.1:c.3122C=	XP_016874319.1:p.Ala1041=
XM_017018831.2:c.2642C=	XP_016874320.1:p.Ala881=
NM_001844.5:c.3188C= MANE Select	NP_001835.3:p.Ala1063=
NM_033150.3:c.2981C=	NP_149162.2:p.Ala994=