Canonical Allele Identifier: CA2034476245

Gene: COL2A1

Linked Data

• dbSNP Id: rs1565669523

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977072_47977073insATACTTGGA , CM000674.2:g.47977072_47977073insATACTTGGA	GRCh38
NC_000012.11:g.48370855_48370856insATACTTGGA , CM000674.1:g.48370855_48370856insATACTTGGA	GRCh37
NC_000012.10:g.46657122_46657123insATACTTGGA	NCBI36
NG_008072.1:g.32430_32431insTCCAAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3120+29_3120+30insTCCAAGTAT	ENSP00000338213.6:n.3120+29_3120+30insTCCAAGTAT
ENST00000380518.8:c.3327+29_3327+30insTCCAAGTAT MANE Select	ENSP00000369889.3:n.3327+29_3327+30insTCCAAGTAT
ENST00000337299.6:c.3120+29_3120+30insTCCAAGTAT	ENSP00000338213.6:n.3120+29_3120+30insTCCAAGTAT
ENST00000380518.7:c.3327+29_3327+30insTCCAAGTAT	ENSP00000369889.3:n.3327+29_3327+30insTCCAAGTAT
ENST00000493991.5:n.2413+29_2413+30insTCCAAGTAT
ENST00000546974.1:n.180+29_180+30insTCCAAGTAT
NM_001844.4:c.3327+29_3327+30insTCCAAGTAT	NP_001835.3:n.3327+29_3327+30insTCCAAGTAT
NM_033150.2:c.3120+29_3120+30insTCCAAGTAT	NP_149162.2:n.3120+29_3120+30insTCCAAGTAT
XM_006719242.2:c.3471+29_3471+30insTCCAAGTAT	XP_006719305.2:n.3471+29_3471+30insTCCAAGTAT
XM_011537928.1:c.3471+29_3471+30insTCCAAGTAT	XP_011536230.1:n.3471+29_3471+30insTCCAAGTAT
XM_011537929.1:c.3471+29_3471+30insTCCAAGTAT	XP_011536231.1:n.3471+29_3471+30insTCCAAGTAT
XM_011537930.1:c.3471+29_3471+30insTCCAAGTAT	XP_011536232.1:n.3471+29_3471+30insTCCAAGTAT
XM_011537931.1:c.3471+29_3471+30insTCCAAGTAT	XP_011536233.1:n.3471+29_3471+30insTCCAAGTAT
XM_011537932.1:c.3471+29_3471+30insTCCAAGTAT	XP_011536234.1:n.3471+29_3471+30insTCCAAGTAT
XM_011537933.1:c.3471+29_3471+30insTCCAAGTAT	XP_011536235.1:n.3471+29_3471+30insTCCAAGTAT
XM_011537934.1:c.3468+29_3468+30insTCCAAGTAT	XP_011536236.1:n.3468+29_3468+30insTCCAAGTAT
XM_011537935.1:c.2415+29_2415+30insTCCAAGTAT	XP_011536237.1:n.2415+29_2415+30insTCCAAGTAT
XM_017018828.1:c.3471+29_3471+30insTCCAAGTAT	XP_016874317.1:n.3471+29_3471+30insTCCAAGTAT
XM_017018829.1:c.3468+29_3468+30insTCCAAGTAT	XP_016874318.1:n.3468+29_3468+30insTCCAAGTAT
XM_017018830.1:c.3261+29_3261+30insTCCAAGTAT	XP_016874319.1:n.3261+29_3261+30insTCCAAGTAT
XM_017018831.2:c.2781+29_2781+30insTCCAAGTAT	XP_016874320.1:n.2781+29_2781+30insTCCAAGTAT
NM_001844.5:c.3327+29_3327+30insTCCAAGTAT MANE Select	NP_001835.3:n.3327+29_3327+30insTCCAAGTAT
NM_033150.3:c.3120+29_3120+30insTCCAAGTAT	NP_149162.2:n.3120+29_3120+30insTCCAAGTAT