Canonical Allele Identifier: CA384525607

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47998433T>A , CM000674.2:g.47998433T>A	GRCh38
NC_000012.11:g.48392216T>A , CM000674.1:g.48392216T>A	GRCh37
NC_000012.10:g.46678483T>A	NCBI36
NG_008072.1:g.11070A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.293-2A>T MANE Select	NP_001835.3:n.293-2A>T
ENST00000380518.8:c.293-2A>T MANE Select	ENSP00000369889.3:n.293-2A>T
NM_001844.4:c.293-2A>T	NP_001835.3:n.293-2A>T
NM_033150.2:c.86-2A>T	NP_149162.2:n.86-2A>T
NM_033150.3:c.86-2A>T	NP_149162.2:n.86-2A>T
ENST00000337299.6:c.86-2A>T	ENSP00000338213.6:n.86-2A>T
ENST00000337299.7:c.86-2A>T	ENSP00000338213.6:n.86-2A>T
ENST00000380518.7:c.293-2A>T	ENSP00000369889.3:n.293-2A>T
ENST00000466884.1:n.427A>T
ENST00000474996.6:n.531-2A>T
XM_006719242.2:c.437-2A>T	XP_006719305.2:n.437-2A>T
XM_011537928.1:c.437-2A>T	XP_011536230.1:n.437-2A>T
XM_011537929.1:c.437-2A>T	XP_011536231.1:n.437-2A>T
XM_011537930.1:c.437-2A>T	XP_011536232.1:n.437-2A>T
XM_011537931.1:c.437-2A>T	XP_011536233.1:n.437-2A>T
XM_011537932.1:c.437-2A>T	XP_011536234.1:n.437-2A>T
XM_011537933.1:c.437-2A>T	XP_011536235.1:n.437-2A>T
XM_011537934.1:c.434-2A>T	XP_011536236.1:n.434-2A>T
XM_017018828.1:c.437-2A>T	XP_016874317.1:n.437-2A>T
XM_017018829.1:c.434-2A>T	XP_016874318.1:n.434-2A>T
XM_017018830.1:c.227-2A>T	XP_016874319.1:n.227-2A>T
XM_017018831.2:c.-254-2A>T	XP_016874320.1:n.-254-2A>T