Canonical Allele Identifier: CA384535646

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974738C>T , CM000674.2:g.47974738C>T	GRCh38
NC_000012.11:g.48368521C>T , CM000674.1:g.48368521C>T	GRCh37
NC_000012.10:g.46654788C>T	NCBI36
NG_008072.1:g.34765G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.4011G>A MANE Select	NP_001835.3:p.Trp1337Ter
ENST00000380518.8:c.4011G>A MANE Select	ENSP00000369889.3:p.Trp1337Ter
NM_001844.4:c.4011G>A	NP_001835.3:p.Trp1337Ter
NM_033150.2:c.3804G>A	NP_149162.2:p.Trp1268Ter
NM_033150.3:c.3804G>A	NP_149162.2:p.Trp1268Ter
ENST00000337299.6:c.3804G>A	ENSP00000338213.6:p.Trp1268Ter
ENST00000337299.7:c.3804G>A	ENSP00000338213.6:p.Trp1268Ter
ENST00000380518.7:c.4011G>A	ENSP00000369889.3:p.Trp1337Ter
ENST00000493991.5:n.3097G>A
XM_006719242.2:c.4155G>A	XP_006719305.2:p.Trp1385Ter
XM_011537928.1:c.4155G>A	XP_011536230.1:p.Trp1385Ter
XM_011537929.1:c.4155G>A	XP_011536231.1:p.Trp1385Ter
XM_011537930.1:c.4155G>A	XP_011536232.1:p.Trp1385Ter
XM_011537931.1:c.4155G>A	XP_011536233.1:p.Trp1385Ter
XM_011537932.1:c.4155G>A	XP_011536234.1:p.Trp1385Ter
XM_011537933.1:c.4155G>A	XP_011536235.1:p.Trp1385Ter
XM_011537934.1:c.4152G>A	XP_011536236.1:p.Trp1384Ter
XM_011537935.1:c.3099G>A	XP_011536237.1:p.Trp1033Ter
XM_017018828.1:c.4155G>A	XP_016874317.1:p.Trp1385Ter
XM_017018829.1:c.4152G>A	XP_016874318.1:p.Trp1384Ter
XM_017018830.1:c.3945G>A	XP_016874319.1:p.Trp1315Ter
XM_017018831.2:c.3465G>A	XP_016874320.1:p.Trp1155Ter