Canonical Allele Identifier: CA2580085495

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2052627
• ClinVar RCV Id: RCV002937587

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977404dup , CM000674.2:g.47977404dup	GRCh38
NC_000012.11:g.48371187dup , CM000674.1:g.48371187dup	GRCh37
NC_000012.10:g.46657454dup	NCBI36
NG_008072.1:g.32099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2982dup	ENSP00000338213.6:p.Val995CysfsTer?
ENST00000380518.8:c.3189dup MANE Select	ENSP00000369889.3:p.Val1064CysfsTer?
ENST00000337299.6:c.2982dup	ENSP00000338213.6:p.Val995CysfsTer?
ENST00000380518.7:c.3189dup	ENSP00000369889.3:p.Val1064CysfsTer?
ENST00000493991.5:n.2275dup
ENST00000546974.1:n.42dup
NM_001844.4:c.3189dup	NP_001835.3:p.Val1064CysfsTer?
NM_033150.2:c.2982dup	NP_149162.2:p.Val995CysfsTer?
XM_006719242.2:c.3333dup	XP_006719305.2:p.Val1112CysfsTer?
XM_011537928.1:c.3333dup	XP_011536230.1:p.Val1112CysfsTer?
XM_011537929.1:c.3333dup	XP_011536231.1:p.Val1112CysfsTer?
XM_011537930.1:c.3333dup	XP_011536232.1:p.Val1112CysfsTer?
XM_011537931.1:c.3333dup	XP_011536233.1:p.Val1112CysfsTer?
XM_011537932.1:c.3333dup	XP_011536234.1:p.Val1112CysfsTer?
XM_011537933.1:c.3333dup	XP_011536235.1:p.Val1112CysfsTer?
XM_011537934.1:c.3330dup	XP_011536236.1:p.Val1111CysfsTer?
XM_011537935.1:c.2277dup	XP_011536237.1:p.Val760CysfsTer?
XM_017018828.1:c.3333dup	XP_016874317.1:p.Val1112CysfsTer?
XM_017018829.1:c.3330dup	XP_016874318.1:p.Val1111CysfsTer?
XM_017018830.1:c.3123dup	XP_016874319.1:p.Val1042CysfsTer?
XM_017018831.2:c.2643dup	XP_016874320.1:p.Val882CysfsTer?
NM_001844.5:c.3189dup MANE Select	NP_001835.3:p.Val1064CysfsTer?
NM_033150.3:c.2982dup	NP_149162.2:p.Val995CysfsTer?