Canonical Allele Identifier: CA6535588

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47987694T>C , CM000674.2:g.47987694T>C	GRCh38
NC_000012.11:g.48381477T>C , CM000674.1:g.48381477T>C	GRCh37
NC_000012.10:g.46667744T>C	NCBI36
NG_008072.1:g.21809A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.1138A>G MANE Select	NP_001835.3:p.Thr380Ala
ENST00000380518.8:c.1138A>G MANE Select	ENSP00000369889.3:p.Thr380Ala
NM_001844.4:c.1138A>G	NP_001835.3:p.Thr380Ala
NM_033150.2:c.931A>G	NP_149162.2:p.Thr311Ala
NM_033150.3:c.931A>G	NP_149162.2:p.Thr311Ala
ENST00000337299.6:c.931A>G	ENSP00000338213.6:p.Thr311Ala
ENST00000337299.7:c.931A>G	ENSP00000338213.6:p.Thr311Ala
ENST00000380518.7:c.1138A>G	ENSP00000369889.3:p.Thr380Ala
ENST00000493991.5:n.62A>G
XM_006719242.2:c.1282A>G	XP_006719305.2:p.Thr428Ala
XM_011537928.1:c.1282A>G	XP_011536230.1:p.Thr428Ala
XM_011537929.1:c.1282A>G	XP_011536231.1:p.Thr428Ala
XM_011537930.1:c.1282A>G	XP_011536232.1:p.Thr428Ala
XM_011537931.1:c.1282A>G	XP_011536233.1:p.Thr428Ala
XM_011537932.1:c.1282A>G	XP_011536234.1:p.Thr428Ala
XM_011537933.1:c.1282A>G	XP_011536235.1:p.Thr428Ala
XM_011537934.1:c.1279A>G	XP_011536236.1:p.Thr427Ala
XM_011537935.1:c.226A>G	XP_011536237.1:p.Thr76Ala
XM_017018828.1:c.1282A>G	XP_016874317.1:p.Thr428Ala
XM_017018829.1:c.1279A>G	XP_016874318.1:p.Thr427Ala
XM_017018830.1:c.1072A>G	XP_016874319.1:p.Thr358Ala
XM_017018831.2:c.592A>G	XP_016874320.1:p.Thr198Ala