Canonical Allele Identifier: CA2697559170

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2752068
• ClinVar RCV Id: RCV003571180

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974152del , CM000674.2:g.47974152del	GRCh38
NC_000012.11:g.48367935del , CM000674.1:g.48367935del	GRCh37
NC_000012.10:g.46654202del	NCBI36
NG_008072.1:g.35351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4047del	ENSP00000338213.6:p.Asp1349GlufsTer17
ENST00000380518.8:c.4254del MANE Select	ENSP00000369889.3:p.Asp1418GlufsTer17
ENST00000337299.6:c.4047del	ENSP00000338213.6:p.Asp1349GlufsTer17
ENST00000380518.7:c.4254del	ENSP00000369889.3:p.Asp1418GlufsTer17
ENST00000493991.5:n.3340del
NM_001844.4:c.4254del	NP_001835.3:p.Asp1418GlufsTer17
NM_033150.2:c.4047del	NP_149162.2:p.Asp1349GlufsTer17
XM_006719242.2:c.4398del	XP_006719305.2:p.Asp1466GlufsTer17
XM_011537928.1:c.4398del	XP_011536230.1:p.Asp1466GlufsTer17
XM_011537929.1:c.4398del	XP_011536231.1:p.Asp1466GlufsTer17
XM_011537930.1:c.4398del	XP_011536232.1:p.Asp1466GlufsTer17
XM_011537931.1:c.4398del	XP_011536233.1:p.Asp1466GlufsTer17
XM_011537932.1:c.4398del	XP_011536234.1:p.Asp1466GlufsTer17
XM_011537933.1:c.4398del	XP_011536235.1:p.Asp1466GlufsTer17
XM_011537934.1:c.4395del	XP_011536236.1:p.Asp1465GlufsTer17
XM_011537935.1:c.3342del	XP_011536237.1:p.Asp1114GlufsTer17
XM_017018828.1:c.4398del	XP_016874317.1:p.Asp1466GlufsTer17
XM_017018829.1:c.4395del	XP_016874318.1:p.Asp1465GlufsTer17
XM_017018830.1:c.4188del	XP_016874319.1:p.Asp1396GlufsTer17
XM_017018831.2:c.3708del	XP_016874320.1:p.Asp1236GlufsTer17
NM_001844.5:c.4254del MANE Select	NP_001835.3:p.Asp1418GlufsTer17
NM_033150.3:c.4047del	NP_149162.2:p.Asp1349GlufsTer17