Canonical Allele Identifier: CA2034450491

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982886G= , CM000674.2:g.47982886G=	GRCh38
NC_000012.11:g.48376669G= , CM000674.1:g.48376669G=	GRCh37
NC_000012.10:g.46662936G=	NCBI36
NG_008072.1:g.26617C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.2155C= MANE Select	NP_001835.3:p.Arg719=
ENST00000380518.8:c.2155C= MANE Select	ENSP00000369889.3:p.Arg719=
NM_001844.4:c.2155C=	NP_001835.3:p.Arg719=
NM_033150.2:c.1948C=	NP_149162.2:p.Arg650=
NM_033150.3:c.1948C=	NP_149162.2:p.Arg650=
ENST00000337299.6:c.1948C=	ENSP00000338213.6:p.Arg650=
ENST00000337299.7:c.1948C=	ENSP00000338213.6:p.Arg650=
ENST00000380518.7:c.2155C=	ENSP00000369889.3:p.Arg719=
ENST00000483376.1:n.333C=
ENST00000493991.5:n.1079C=
XM_006719242.2:c.2299C=	XP_006719305.2:p.Arg767=
XM_011537928.1:c.2299C=	XP_011536230.1:p.Arg767=
XM_011537929.1:c.2299C=	XP_011536231.1:p.Arg767=
XM_011537930.1:c.2299C=	XP_011536232.1:p.Arg767=
XM_011537931.1:c.2299C=	XP_011536233.1:p.Arg767=
XM_011537932.1:c.2299C=	XP_011536234.1:p.Arg767=
XM_011537933.1:c.2299C=	XP_011536235.1:p.Arg767=
XM_011537934.1:c.2296C=	XP_011536236.1:p.Arg766=
XM_011537935.1:c.1243C=	XP_011536237.1:p.Arg415=
XM_017018828.1:c.2299C=	XP_016874317.1:p.Arg767=
XM_017018829.1:c.2296C=	XP_016874318.1:p.Arg766=
XM_017018830.1:c.2089C=	XP_016874319.1:p.Arg697=
XM_017018831.2:c.1609C=	XP_016874320.1:p.Arg537=