Canonical Allele Identifier: CA658797880

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 499269
• ClinVar RCV Id: RCV000596206
• dbSNP Id: rs1555164385

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974201_47974211delinsGGCAATGCT , CM000674.2:g.47974201_47974211delinsGGCAATGCT	GRCh38
NC_000012.11:g.48367984_48367994delinsGGCAATGCT , CM000674.1:g.48367984_48367994delinsGGCAATGCT	GRCh37
NC_000012.10:g.46654251_46654261delinsGGCAATGCT	NCBI36
NG_008072.1:g.35292_35302delinsAGCATTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3988_3998delinsAGCATTGCC	ENSP00000338213.6:p.Tyr1330SerfsTer19
ENST00000380518.8:c.4195_4205delinsAGCATTGCC MANE Select	ENSP00000369889.3:p.Tyr1399SerfsTer19
ENST00000337299.6:c.3988_3998delinsAGCATTGCC	ENSP00000338213.6:p.Tyr1330SerfsTer19
ENST00000380518.7:c.4195_4205delinsAGCATTGCC	ENSP00000369889.3:p.Tyr1399SerfsTer19
ENST00000493991.5:n.3281_3291delinsAGCATTGCC
NM_001844.4:c.4195_4205delinsAGCATTGCC	NP_001835.3:p.Tyr1399SerfsTer19
NM_033150.2:c.3988_3998delinsAGCATTGCC	NP_149162.2:p.Tyr1330SerfsTer19
XM_006719242.2:c.4339_4349delinsAGCATTGCC	XP_006719305.2:p.Tyr1447SerfsTer19
XM_011537928.1:c.4339_4349delinsAGCATTGCC	XP_011536230.1:p.Tyr1447SerfsTer19
XM_011537929.1:c.4339_4349delinsAGCATTGCC	XP_011536231.1:p.Tyr1447SerfsTer19
XM_011537930.1:c.4339_4349delinsAGCATTGCC	XP_011536232.1:p.Tyr1447SerfsTer19
XM_011537931.1:c.4339_4349delinsAGCATTGCC	XP_011536233.1:p.Tyr1447SerfsTer19
XM_011537932.1:c.4339_4349delinsAGCATTGCC	XP_011536234.1:p.Tyr1447SerfsTer19
XM_011537933.1:c.4339_4349delinsAGCATTGCC	XP_011536235.1:p.Tyr1447SerfsTer19
XM_011537934.1:c.4336_4346delinsAGCATTGCC	XP_011536236.1:p.Tyr1446SerfsTer19
XM_011537935.1:c.3283_3293delinsAGCATTGCC	XP_011536237.1:p.Tyr1095SerfsTer19
XM_017018828.1:c.4339_4349delinsAGCATTGCC	XP_016874317.1:p.Tyr1447SerfsTer19
XM_017018829.1:c.4336_4346delinsAGCATTGCC	XP_016874318.1:p.Tyr1446SerfsTer19
XM_017018830.1:c.4129_4139delinsAGCATTGCC	XP_016874319.1:p.Tyr1377SerfsTer19
XM_017018831.2:c.3649_3659delinsAGCATTGCC	XP_016874320.1:p.Tyr1217SerfsTer19
NM_001844.5:c.4195_4205delinsAGCATTGCC MANE Select	NP_001835.3:p.Tyr1399SerfsTer19
NM_033150.3:c.3988_3998delinsAGCATTGCC	NP_149162.2:p.Tyr1330SerfsTer19