Canonical Allele Identifier: CA2740097989

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995723del , CM000674.2:g.47995723del	GRCh38
NC_000012.11:g.48389506del , CM000674.1:g.48389506del	GRCh37
NC_000012.10:g.46675773del	NCBI36
NG_008072.1:g.13781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.489del	ENSP00000338213.6:p.Glu163AspfsTer?
ENST00000380518.8:c.696del MANE Select	ENSP00000369889.3:p.Glu232AspfsTer?
ENST00000337299.6:c.489del	ENSP00000338213.6:p.Glu163AspfsTer?
ENST00000380518.7:c.696del	ENSP00000369889.3:p.Glu232AspfsTer?
NM_001844.4:c.696del	NP_001835.3:p.Glu232AspfsTer?
NM_033150.2:c.489del	NP_149162.2:p.Glu163AspfsTer?
XM_006719242.2:c.840del	XP_006719305.2:p.Glu280AspfsTer?
XM_011537928.1:c.840del	XP_011536230.1:p.Glu280AspfsTer?
XM_011537929.1:c.840del	XP_011536231.1:p.Glu280AspfsTer?
XM_011537930.1:c.840del	XP_011536232.1:p.Glu280AspfsTer?
XM_011537931.1:c.840del	XP_011536233.1:p.Glu280AspfsTer?
XM_011537932.1:c.840del	XP_011536234.1:p.Glu280AspfsTer?
XM_011537933.1:c.840del	XP_011536235.1:p.Glu280AspfsTer?
XM_011537934.1:c.837del	XP_011536236.1:p.Glu279AspfsTer?
XM_017018828.1:c.840del	XP_016874317.1:p.Glu280AspfsTer?
XM_017018829.1:c.837del	XP_016874318.1:p.Glu279AspfsTer?
XM_017018830.1:c.630del	XP_016874319.1:p.Glu210AspfsTer?
XM_017018831.2:c.150del	XP_016874320.1:p.Glu50AspfsTer?
NM_001844.5:c.696del MANE Select	NP_001835.3:p.Glu232AspfsTer?
NM_033150.3:c.489del	NP_149162.2:p.Glu163AspfsTer?