Canonical Allele Identifier: CA2842407728

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974216dup , CM000674.2:g.47974216dup	GRCh38
NC_000012.11:g.48367999dup , CM000674.1:g.48367999dup	GRCh37
NC_000012.10:g.46654266dup	NCBI36
NG_008072.1:g.35288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3984dup	ENSP00000338213.6:p.Ala1329CysfsTer21
ENST00000380518.8:c.4191dup MANE Select	ENSP00000369889.3:p.Ala1398CysfsTer21
ENST00000337299.6:c.3984dup	ENSP00000338213.6:p.Ala1329CysfsTer21
ENST00000380518.7:c.4191dup	ENSP00000369889.3:p.Ala1398CysfsTer21
ENST00000493991.5:n.3277dup
NM_001844.4:c.4191dup	NP_001835.3:p.Ala1398CysfsTer21
NM_033150.2:c.3984dup	NP_149162.2:p.Ala1329CysfsTer21
XM_006719242.2:c.4335dup	XP_006719305.2:p.Ala1446CysfsTer21
XM_011537928.1:c.4335dup	XP_011536230.1:p.Ala1446CysfsTer21
XM_011537929.1:c.4335dup	XP_011536231.1:p.Ala1446CysfsTer21
XM_011537930.1:c.4335dup	XP_011536232.1:p.Ala1446CysfsTer21
XM_011537931.1:c.4335dup	XP_011536233.1:p.Ala1446CysfsTer21
XM_011537932.1:c.4335dup	XP_011536234.1:p.Ala1446CysfsTer21
XM_011537933.1:c.4335dup	XP_011536235.1:p.Ala1446CysfsTer21
XM_011537934.1:c.4332dup	XP_011536236.1:p.Ala1445CysfsTer21
XM_011537935.1:c.3279dup	XP_011536237.1:p.Ala1094CysfsTer21
XM_017018828.1:c.4335dup	XP_016874317.1:p.Ala1446CysfsTer21
XM_017018829.1:c.4332dup	XP_016874318.1:p.Ala1445CysfsTer21
XM_017018830.1:c.4125dup	XP_016874319.1:p.Ala1376CysfsTer21
XM_017018831.2:c.3645dup	XP_016874320.1:p.Ala1216CysfsTer21
NM_001844.5:c.4191dup MANE Select	NP_001835.3:p.Ala1398CysfsTer21
NM_033150.3:c.3984dup	NP_149162.2:p.Ala1329CysfsTer21