Canonical Allele Identifier: CA6535781

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47994442C>T , CM000674.2:g.47994442C>T	GRCh38
NC_000012.11:g.48388225C>T , CM000674.1:g.48388225C>T	GRCh37
NC_000012.10:g.46674492C>T	NCBI36
NG_008072.1:g.15061G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.798G>A MANE Select	NP_001835.3:p.Arg266=
ENST00000380518.8:c.798G>A MANE Select	ENSP00000369889.3:p.Arg266=
NM_001844.4:c.798G>A	NP_001835.3:p.Arg266=
NM_033150.2:c.591G>A	NP_149162.2:p.Arg197=
NM_033150.3:c.591G>A	NP_149162.2:p.Arg197=
ENST00000337299.6:c.591G>A	ENSP00000338213.6:p.Arg197=
ENST00000337299.7:c.591G>A	ENSP00000338213.6:p.Arg197=
ENST00000380518.7:c.798G>A	ENSP00000369889.3:p.Arg266=
XM_006719242.2:c.942G>A	XP_006719305.2:p.Arg314=
XM_011537928.1:c.942G>A	XP_011536230.1:p.Arg314=
XM_011537929.1:c.942G>A	XP_011536231.1:p.Arg314=
XM_011537930.1:c.942G>A	XP_011536232.1:p.Arg314=
XM_011537931.1:c.942G>A	XP_011536233.1:p.Arg314=
XM_011537932.1:c.942G>A	XP_011536234.1:p.Arg314=
XM_011537933.1:c.942G>A	XP_011536235.1:p.Arg314=
XM_011537934.1:c.939G>A	XP_011536236.1:p.Arg313=
XM_017018828.1:c.942G>A	XP_016874317.1:p.Arg314=
XM_017018829.1:c.939G>A	XP_016874318.1:p.Arg313=
XM_017018830.1:c.732G>A	XP_016874319.1:p.Arg244=
XM_017018831.2:c.252G>A	XP_016874320.1:p.Arg84=