Canonical Allele Identifier: CA6535885

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47996607C>T , CM000674.2:g.47996607C>T	GRCh38
NC_000012.11:g.48390390C>T , CM000674.1:g.48390390C>T	GRCh37
NC_000012.10:g.46676657C>T	NCBI36
NG_008072.1:g.12896G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.550G>A MANE Select	NP_001835.3:p.Ala184Thr
ENST00000380518.8:c.550G>A MANE Select	ENSP00000369889.3:p.Ala184Thr
NM_001844.4:c.550G>A	NP_001835.3:p.Ala184Thr
NM_033150.2:c.343G>A	NP_149162.2:p.Ala115Thr
NM_033150.3:c.343G>A	NP_149162.2:p.Ala115Thr
ENST00000337299.6:c.343G>A	ENSP00000338213.6:p.Ala115Thr
ENST00000337299.7:c.343G>A	ENSP00000338213.6:p.Ala115Thr
ENST00000380518.7:c.550G>A	ENSP00000369889.3:p.Ala184Thr
XM_006719242.2:c.694G>A	XP_006719305.2:p.Ala232Thr
XM_011537928.1:c.694G>A	XP_011536230.1:p.Ala232Thr
XM_011537929.1:c.694G>A	XP_011536231.1:p.Ala232Thr
XM_011537930.1:c.694G>A	XP_011536232.1:p.Ala232Thr
XM_011537931.1:c.694G>A	XP_011536233.1:p.Ala232Thr
XM_011537932.1:c.694G>A	XP_011536234.1:p.Ala232Thr
XM_011537933.1:c.694G>A	XP_011536235.1:p.Ala232Thr
XM_011537934.1:c.691G>A	XP_011536236.1:p.Ala231Thr
XM_017018828.1:c.694G>A	XP_016874317.1:p.Ala232Thr
XM_017018829.1:c.691G>A	XP_016874318.1:p.Ala231Thr
XM_017018830.1:c.484G>A	XP_016874319.1:p.Ala162Thr
XM_017018831.2:c.4G>A	XP_016874320.1:p.Ala2Thr
XR_944909.1:n.9C>T