Canonical Allele Identifier: CA2034474746

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975945_47975946delinsAG , CM000674.2:g.47975945_47975946delinsAG	GRCh38
NC_000012.11:g.48369728_48369729delinsAG , CM000674.1:g.48369728_48369729delinsAG	GRCh37
NC_000012.10:g.46655995_46655996delinsAG	NCBI36
NG_008072.1:g.33557_33558delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3390+17_3390+18delinsCT	ENSP00000338213.6:n.3390+17_3390+18delinsCT
ENST00000380518.8:c.3597+17_3597+18delinsCT MANE Select	ENSP00000369889.3:n.3597+17_3597+18delinsCT
ENST00000337299.6:c.3390+17_3390+18delinsCT	ENSP00000338213.6:n.3390+17_3390+18delinsCT
ENST00000380518.7:c.3597+17_3597+18delinsCT	ENSP00000369889.3:n.3597+17_3597+18delinsCT
ENST00000493991.5:n.2683+17_2683+18delinsCT
ENST00000546974.1:n.450+17_450+18delinsCT
NM_001844.4:c.3597+17_3597+18delinsCT	NP_001835.3:n.3597+17_3597+18delinsCT
NM_033150.2:c.3390+17_3390+18delinsCT	NP_149162.2:n.3390+17_3390+18delinsCT
XM_006719242.2:c.3741+17_3741+18delinsCT	XP_006719305.2:n.3741+17_3741+18delinsCT
XM_011537928.1:c.3741+17_3741+18delinsCT	XP_011536230.1:n.3741+17_3741+18delinsCT
XM_011537929.1:c.3741+17_3741+18delinsCT	XP_011536231.1:n.3741+17_3741+18delinsCT
XM_011537930.1:c.3741+17_3741+18delinsCT	XP_011536232.1:n.3741+17_3741+18delinsCT
XM_011537931.1:c.3741+17_3741+18delinsCT	XP_011536233.1:n.3741+17_3741+18delinsCT
XM_011537932.1:c.3741+17_3741+18delinsCT	XP_011536234.1:n.3741+17_3741+18delinsCT
XM_011537933.1:c.3741+17_3741+18delinsCT	XP_011536235.1:n.3741+17_3741+18delinsCT
XM_011537934.1:c.3738+17_3738+18delinsCT	XP_011536236.1:n.3738+17_3738+18delinsCT
XM_011537935.1:c.2685+17_2685+18delinsCT	XP_011536237.1:n.2685+17_2685+18delinsCT
XM_017018828.1:c.3741+17_3741+18delinsCT	XP_016874317.1:n.3741+17_3741+18delinsCT
XM_017018829.1:c.3738+17_3738+18delinsCT	XP_016874318.1:n.3738+17_3738+18delinsCT
XM_017018830.1:c.3531+17_3531+18delinsCT	XP_016874319.1:n.3531+17_3531+18delinsCT
XM_017018831.2:c.3051+17_3051+18delinsCT	XP_016874320.1:n.3051+17_3051+18delinsCT
NM_001844.5:c.3597+17_3597+18delinsCT MANE Select	NP_001835.3:n.3597+17_3597+18delinsCT
NM_033150.3:c.3390+17_3390+18delinsCT	NP_149162.2:n.3390+17_3390+18delinsCT