Canonical Allele Identifier: CA2580085547

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47989766del , CM000674.2:g.47989766del	GRCh38
NC_000012.11:g.48383549del , CM000674.1:g.48383549del	GRCh37
NC_000012.10:g.46669816del	NCBI36
NG_008072.1:g.19738del

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.1064del MANE Select	NP_001835.3:p.Pro355LeufsTer?
ENST00000380518.8:c.1064del MANE Select	ENSP00000369889.3:p.Pro355LeufsTer?
NM_001844.4:c.1064del	NP_001835.3:p.Pro355LeufsTer?
NM_033150.2:c.857del	NP_149162.2:p.Pro286LeufsTer?
NM_033150.3:c.857del	NP_149162.2:p.Pro286LeufsTer?
ENST00000337299.6:c.857del	ENSP00000338213.6:p.Pro286LeufsTer?
ENST00000337299.7:c.857del	ENSP00000338213.6:p.Pro286LeufsTer?
ENST00000380518.7:c.1064del	ENSP00000369889.3:p.Pro355LeufsTer?
XM_006719242.2:c.1208del	XP_006719305.2:p.Pro403LeufsTer?
XM_011537928.1:c.1208del	XP_011536230.1:p.Pro403LeufsTer?
XM_011537929.1:c.1208del	XP_011536231.1:p.Pro403LeufsTer?
XM_011537930.1:c.1208del	XP_011536232.1:p.Pro403LeufsTer?
XM_011537931.1:c.1208del	XP_011536233.1:p.Pro403LeufsTer?
XM_011537932.1:c.1208del	XP_011536234.1:p.Pro403LeufsTer?
XM_011537933.1:c.1208del	XP_011536235.1:p.Pro403LeufsTer?
XM_011537934.1:c.1205del	XP_011536236.1:p.Pro402LeufsTer?
XM_017018828.1:c.1208del	XP_016874317.1:p.Pro403LeufsTer?
XM_017018829.1:c.1205del	XP_016874318.1:p.Pro402LeufsTer?
XM_017018830.1:c.998del	XP_016874319.1:p.Pro333LeufsTer?
XM_017018831.2:c.518del	XP_016874320.1:p.Pro173LeufsTer?