Canonical Allele Identifier: CA2573148620

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1451657
• ClinVar RCV Id: RCV002035353
• dbSNP Id: rs2136521461

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977374del , CM000674.2:g.47977374del	GRCh38
NC_000012.11:g.48371157del , CM000674.1:g.48371157del	GRCh37
NC_000012.10:g.46657424del	NCBI36
NG_008072.1:g.32129del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3012del	ENSP00000338213.6:p.Gly1005AlafsTer?
ENST00000380518.8:c.3219del MANE Select	ENSP00000369889.3:p.Gly1074AlafsTer?
ENST00000337299.6:c.3012del	ENSP00000338213.6:p.Gly1005AlafsTer?
ENST00000380518.7:c.3219del	ENSP00000369889.3:p.Gly1074AlafsTer?
ENST00000493991.5:n.2305del
ENST00000546974.1:n.72del
NM_001844.4:c.3219del	NP_001835.3:p.Gly1074AlafsTer?
NM_033150.2:c.3012del	NP_149162.2:p.Gly1005AlafsTer?
XM_006719242.2:c.3363del	XP_006719305.2:p.Gly1122AlafsTer?
XM_011537928.1:c.3363del	XP_011536230.1:p.Gly1122AlafsTer?
XM_011537929.1:c.3363del	XP_011536231.1:p.Gly1122AlafsTer?
XM_011537930.1:c.3363del	XP_011536232.1:p.Gly1122AlafsTer?
XM_011537931.1:c.3363del	XP_011536233.1:p.Gly1122AlafsTer?
XM_011537932.1:c.3363del	XP_011536234.1:p.Gly1122AlafsTer?
XM_011537933.1:c.3363del	XP_011536235.1:p.Gly1122AlafsTer?
XM_011537934.1:c.3360del	XP_011536236.1:p.Gly1121AlafsTer?
XM_011537935.1:c.2307del	XP_011536237.1:p.Gly770AlafsTer?
XM_017018828.1:c.3363del	XP_016874317.1:p.Gly1122AlafsTer?
XM_017018829.1:c.3360del	XP_016874318.1:p.Gly1121AlafsTer?
XM_017018830.1:c.3153del	XP_016874319.1:p.Gly1052AlafsTer?
XM_017018831.2:c.2673del	XP_016874320.1:p.Gly892AlafsTer?
NM_001844.5:c.3219del MANE Select	NP_001835.3:p.Gly1074AlafsTer?
NM_033150.3:c.3012del	NP_149162.2:p.Gly1005AlafsTer?