Canonical Allele Identifier: CA2695216581

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47999935_47999947del , CM000674.2:g.47999935_47999947del	GRCh38
NC_000012.11:g.48393718_48393730del , CM000674.1:g.48393718_48393730del	GRCh37
NC_000012.10:g.46679985_46679997del	NCBI36
NG_008072.1:g.9558_9570del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-1514_86-1502del	ENSP00000338213.6:n.86-1514_86-1502del
ENST00000380518.8:c.266_278del MANE Select	ENSP00000369889.3:p.Cys89SerfsTer24
ENST00000490609.2:n.499_511del
ENST00000337299.6:c.86-1514_86-1502del	ENSP00000338213.6:n.86-1514_86-1502del
ENST00000380518.7:c.266_278del	ENSP00000369889.3:p.Cys89SerfsTer24
ENST00000474996.6:n.504_516del
ENST00000490609.1:n.431_443del
NM_001844.4:c.266_278del	NP_001835.3:p.Cys89SerfsTer24
NM_033150.2:c.86-1514_86-1502del	NP_149162.2:n.86-1514_86-1502del
XM_006719242.2:c.407_419del	XP_006719305.2:p.Cys136SerfsTer25
XM_011537928.1:c.407_419del	XP_011536230.1:p.Cys136SerfsTer25
XM_011537929.1:c.407_419del	XP_011536231.1:p.Cys136SerfsTer25
XM_011537930.1:c.407_419del	XP_011536232.1:p.Cys136SerfsTer25
XM_011537931.1:c.407_419del	XP_011536233.1:p.Cys136SerfsTer25
XM_011537932.1:c.407_419del	XP_011536234.1:p.Cys136SerfsTer25
XM_011537933.1:c.407_419del	XP_011536235.1:p.Cys136SerfsTer25
XM_011537934.1:c.407_419del	XP_011536236.1:p.Cys136SerfsTer24
XM_017018828.1:c.407_419del	XP_016874317.1:p.Cys136SerfsTer25
XM_017018829.1:c.407_419del	XP_016874318.1:p.Cys136SerfsTer24
XM_017018830.1:c.227-1514_227-1502del	XP_016874319.1:n.227-1514_227-1502del
XM_017018831.2:c.-281_-269del	XP_016874320.1:n.-281_-269del
NM_001844.5:c.266_278del MANE Select	NP_001835.3:p.Cys89SerfsTer24
NM_033150.3:c.86-1514_86-1502del	NP_149162.2:n.86-1514_86-1502del