Canonical Allele Identifier: CA2795862959

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975688_47975689insCAG , CM000674.2:g.47975688_47975689insCAG	GRCh38
NC_000012.11:g.48369471_48369472insCAG , CM000674.1:g.48369471_48369472insCAG	GRCh37
NC_000012.10:g.46655738_46655739insCAG	NCBI36
NG_008072.1:g.33814_33815insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3391-84_3391-83insCTG	ENSP00000338213.6:n.3391-84_3391-83insCTG
ENST00000380518.8:c.3598-84_3598-83insCTG MANE Select	ENSP00000369889.3:n.3598-84_3598-83insCTG
ENST00000337299.6:c.3391-84_3391-83insCTG	ENSP00000338213.6:n.3391-84_3391-83insCTG
ENST00000380518.7:c.3598-84_3598-83insCTG	ENSP00000369889.3:n.3598-84_3598-83insCTG
ENST00000493991.5:n.2684-84_2684-83insCTG
ENST00000546974.1:n.451-84_451-83insCTG
NM_001844.4:c.3598-84_3598-83insCTG	NP_001835.3:n.3598-84_3598-83insCTG
NM_033150.2:c.3391-84_3391-83insCTG	NP_149162.2:n.3391-84_3391-83insCTG
XM_006719242.2:c.3742-84_3742-83insCTG	XP_006719305.2:n.3742-84_3742-83insCTG
XM_011537928.1:c.3742-84_3742-83insCTG	XP_011536230.1:n.3742-84_3742-83insCTG
XM_011537929.1:c.3742-84_3742-83insCTG	XP_011536231.1:n.3742-84_3742-83insCTG
XM_011537930.1:c.3742-84_3742-83insCTG	XP_011536232.1:n.3742-84_3742-83insCTG
XM_011537931.1:c.3742-84_3742-83insCTG	XP_011536233.1:n.3742-84_3742-83insCTG
XM_011537932.1:c.3742-84_3742-83insCTG	XP_011536234.1:n.3742-84_3742-83insCTG
XM_011537933.1:c.3742-84_3742-83insCTG	XP_011536235.1:n.3742-84_3742-83insCTG
XM_011537934.1:c.3739-84_3739-83insCTG	XP_011536236.1:n.3739-84_3739-83insCTG
XM_011537935.1:c.2686-84_2686-83insCTG	XP_011536237.1:n.2686-84_2686-83insCTG
XM_017018828.1:c.3742-84_3742-83insCTG	XP_016874317.1:n.3742-84_3742-83insCTG
XM_017018829.1:c.3739-84_3739-83insCTG	XP_016874318.1:n.3739-84_3739-83insCTG
XM_017018830.1:c.3532-84_3532-83insCTG	XP_016874319.1:n.3532-84_3532-83insCTG
XM_017018831.2:c.3052-84_3052-83insCTG	XP_016874320.1:n.3052-84_3052-83insCTG
NM_001844.5:c.3598-84_3598-83insCTG MANE Select	NP_001835.3:n.3598-84_3598-83insCTG
NM_033150.3:c.3391-84_3391-83insCTG	NP_149162.2:n.3391-84_3391-83insCTG