Canonical Allele Identifier: CA2739271990

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2859239
• ClinVar RCV Id: RCV003701747

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000047_48000057del , CM000674.2:g.48000047_48000057del	GRCh38
NC_000012.11:g.48393830_48393840del , CM000674.1:g.48393830_48393840del	GRCh37
NC_000012.10:g.46680097_46680107del	NCBI36
NG_008072.1:g.9448_9458del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-1624_86-1614del	ENSP00000338213.6:n.86-1624_86-1614del
ENST00000380518.8:c.156_166del MANE Select	ENSP00000369889.3:p.Arg53LeufsTer2
ENST00000490609.2:n.389_399del
ENST00000337299.6:c.86-1624_86-1614del	ENSP00000338213.6:n.86-1624_86-1614del
ENST00000380518.7:c.156_166del	ENSP00000369889.3:p.Arg53LeufsTer2
ENST00000474996.6:n.394_404del
ENST00000490609.1:n.321_331del
NM_001844.4:c.156_166del	NP_001835.3:p.Arg53LeufsTer2
NM_033150.2:c.86-1624_86-1614del	NP_149162.2:n.86-1624_86-1614del
XM_006719242.2:c.297_307del	XP_006719305.2:p.Arg100LeufsTer2
XM_011537928.1:c.297_307del	XP_011536230.1:p.Arg100LeufsTer2
XM_011537929.1:c.297_307del	XP_011536231.1:p.Arg100LeufsTer2
XM_011537930.1:c.297_307del	XP_011536232.1:p.Arg100LeufsTer2
XM_011537931.1:c.297_307del	XP_011536233.1:p.Arg100LeufsTer2
XM_011537932.1:c.297_307del	XP_011536234.1:p.Arg100LeufsTer2
XM_011537933.1:c.297_307del	XP_011536235.1:p.Arg100LeufsTer2
XM_011537934.1:c.297_307del	XP_011536236.1:p.Arg100LeufsTer2
XM_017018828.1:c.297_307del	XP_016874317.1:p.Arg100LeufsTer2
XM_017018829.1:c.297_307del	XP_016874318.1:p.Arg100LeufsTer2
XM_017018830.1:c.227-1624_227-1614del	XP_016874319.1:n.227-1624_227-1614del
XM_017018831.2:c.-391_-381del	XP_016874320.1:n.-391_-381del
NM_001844.5:c.156_166del MANE Select	NP_001835.3:p.Arg53LeufsTer2
NM_033150.3:c.86-1624_86-1614del	NP_149162.2:n.86-1624_86-1614del