Canonical Allele Identifier: CA2695216648

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978297del , CM000674.2:g.47978297del	GRCh38
NC_000012.11:g.48372080del , CM000674.1:g.48372080del	GRCh37
NC_000012.10:g.46658347del	NCBI36
NG_008072.1:g.31208del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2792del	ENSP00000338213.6:p.Pro931ArgfsTer28
ENST00000380518.8:c.2999del MANE Select	ENSP00000369889.3:p.Pro1000ArgfsTer28
ENST00000337299.6:c.2792del	ENSP00000338213.6:p.Pro931ArgfsTer28
ENST00000380518.7:c.2999del	ENSP00000369889.3:p.Pro1000ArgfsTer28
ENST00000493991.5:n.2085del
NM_001844.4:c.2999del	NP_001835.3:p.Pro1000ArgfsTer28
NM_033150.2:c.2792del	NP_149162.2:p.Pro931ArgfsTer28
XM_006719242.2:c.3143del	XP_006719305.2:p.Pro1048ArgfsTer28
XM_011537928.1:c.3143del	XP_011536230.1:p.Pro1048ArgfsTer28
XM_011537929.1:c.3143del	XP_011536231.1:p.Pro1048ArgfsTer28
XM_011537930.1:c.3143del	XP_011536232.1:p.Pro1048ArgfsTer28
XM_011537931.1:c.3143del	XP_011536233.1:p.Pro1048ArgfsTer28
XM_011537932.1:c.3143del	XP_011536234.1:p.Pro1048ArgfsTer28
XM_011537933.1:c.3143del	XP_011536235.1:p.Pro1048ArgfsTer28
XM_011537934.1:c.3140del	XP_011536236.1:p.Pro1047ArgfsTer28
XM_011537935.1:c.2087del	XP_011536237.1:p.Pro696ArgfsTer28
XM_017018828.1:c.3143del	XP_016874317.1:p.Pro1048ArgfsTer28
XM_017018829.1:c.3140del	XP_016874318.1:p.Pro1047ArgfsTer28
XM_017018830.1:c.2933del	XP_016874319.1:p.Pro978ArgfsTer28
XM_017018831.2:c.2453del	XP_016874320.1:p.Pro818ArgfsTer28
NM_001844.5:c.2999del MANE Select	NP_001835.3:p.Pro1000ArgfsTer28
NM_033150.3:c.2792del	NP_149162.2:p.Pro931ArgfsTer28