Canonical Allele Identifier: CA2034474169

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975544A= , CM000674.2:g.47975544A=	GRCh38
NC_000012.11:g.48369327A= , CM000674.1:g.48369327A=	GRCh37
NC_000012.10:g.46655594A=	NCBI36
NG_008072.1:g.33959T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3452T=	ENSP00000338213.6:p.Met1151=
ENST00000380518.8:c.3659T= MANE Select	ENSP00000369889.3:p.Met1220=
ENST00000337299.6:c.3452T=	ENSP00000338213.6:p.Met1151=
ENST00000380518.7:c.3659T=	ENSP00000369889.3:p.Met1220=
ENST00000493991.5:n.2745T=
ENST00000546974.1:n.512T=
NM_001844.4:c.3659T=	NP_001835.3:p.Met1220=
NM_033150.2:c.3452T=	NP_149162.2:p.Met1151=
XM_006719242.2:c.3803T=	XP_006719305.2:p.Met1268=
XM_011537928.1:c.3803T=	XP_011536230.1:p.Met1268=
XM_011537929.1:c.3803T=	XP_011536231.1:p.Met1268=
XM_011537930.1:c.3803T=	XP_011536232.1:p.Met1268=
XM_011537931.1:c.3803T=	XP_011536233.1:p.Met1268=
XM_011537932.1:c.3803T=	XP_011536234.1:p.Met1268=
XM_011537933.1:c.3803T=	XP_011536235.1:p.Met1268=
XM_011537934.1:c.3800T=	XP_011536236.1:p.Met1267=
XM_011537935.1:c.2747T=	XP_011536237.1:p.Met916=
XM_017018828.1:c.3803T=	XP_016874317.1:p.Met1268=
XM_017018829.1:c.3800T=	XP_016874318.1:p.Met1267=
XM_017018830.1:c.3593T=	XP_016874319.1:p.Met1198=
XM_017018831.2:c.3113T=	XP_016874320.1:p.Met1038=
NM_001844.5:c.3659T= MANE Select	NP_001835.3:p.Met1220=
NM_033150.3:c.3452T=	NP_149162.2:p.Met1151=