Canonical Allele Identifier: CA2034477574

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993836C= , CM000674.2:g.47993836C=	GRCh38
NC_000012.11:g.48387619C= , CM000674.1:g.48387619C=	GRCh37
NC_000012.10:g.46673886C=	NCBI36
NG_008072.1:g.15667G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.690G=	ENSP00000338213.6:p.Lys230=
ENST00000380518.8:c.897G= MANE Select	ENSP00000369889.3:p.Lys299=
ENST00000337299.6:c.690G=	ENSP00000338213.6:p.Lys230=
ENST00000380518.7:c.897G=	ENSP00000369889.3:p.Lys299=
NM_001844.4:c.897G=	NP_001835.3:p.Lys299=
NM_033150.2:c.690G=	NP_149162.2:p.Lys230=
XM_006719242.2:c.1041G=	XP_006719305.2:p.Lys347=
XM_011537928.1:c.1041G=	XP_011536230.1:p.Lys347=
XM_011537929.1:c.1041G=	XP_011536231.1:p.Lys347=
XM_011537930.1:c.1041G=	XP_011536232.1:p.Lys347=
XM_011537931.1:c.1041G=	XP_011536233.1:p.Lys347=
XM_011537932.1:c.1041G=	XP_011536234.1:p.Lys347=
XM_011537933.1:c.1041G=	XP_011536235.1:p.Lys347=
XM_011537934.1:c.1038G=	XP_011536236.1:p.Lys346=
XM_017018828.1:c.1041G=	XP_016874317.1:p.Lys347=
XM_017018829.1:c.1038G=	XP_016874318.1:p.Lys346=
XM_017018830.1:c.831G=	XP_016874319.1:p.Lys277=
XM_017018831.2:c.351G=	XP_016874320.1:p.Lys117=
NM_001844.5:c.897G= MANE Select	NP_001835.3:p.Lys299=
NM_033150.3:c.690G=	NP_149162.2:p.Lys230=