Canonical Allele Identifier: CA2795862987

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975695_47975696insAG , CM000674.2:g.47975695_47975696insAG	GRCh38
NC_000012.11:g.48369478_48369479insAG , CM000674.1:g.48369478_48369479insAG	GRCh37
NC_000012.10:g.46655745_46655746insAG	NCBI36
NG_008072.1:g.33807_33808insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3391-91_3391-90insCT	ENSP00000338213.6:n.3391-91_3391-90insCT
ENST00000380518.8:c.3598-91_3598-90insCT MANE Select	ENSP00000369889.3:n.3598-91_3598-90insCT
ENST00000337299.6:c.3391-91_3391-90insCT	ENSP00000338213.6:n.3391-91_3391-90insCT
ENST00000380518.7:c.3598-91_3598-90insCT	ENSP00000369889.3:n.3598-91_3598-90insCT
ENST00000493991.5:n.2684-91_2684-90insCT
ENST00000546974.1:n.451-91_451-90insCT
NM_001844.4:c.3598-91_3598-90insCT	NP_001835.3:n.3598-91_3598-90insCT
NM_033150.2:c.3391-91_3391-90insCT	NP_149162.2:n.3391-91_3391-90insCT
XM_006719242.2:c.3742-91_3742-90insCT	XP_006719305.2:n.3742-91_3742-90insCT
XM_011537928.1:c.3742-91_3742-90insCT	XP_011536230.1:n.3742-91_3742-90insCT
XM_011537929.1:c.3742-91_3742-90insCT	XP_011536231.1:n.3742-91_3742-90insCT
XM_011537930.1:c.3742-91_3742-90insCT	XP_011536232.1:n.3742-91_3742-90insCT
XM_011537931.1:c.3742-91_3742-90insCT	XP_011536233.1:n.3742-91_3742-90insCT
XM_011537932.1:c.3742-91_3742-90insCT	XP_011536234.1:n.3742-91_3742-90insCT
XM_011537933.1:c.3742-91_3742-90insCT	XP_011536235.1:n.3742-91_3742-90insCT
XM_011537934.1:c.3739-91_3739-90insCT	XP_011536236.1:n.3739-91_3739-90insCT
XM_011537935.1:c.2686-91_2686-90insCT	XP_011536237.1:n.2686-91_2686-90insCT
XM_017018828.1:c.3742-91_3742-90insCT	XP_016874317.1:n.3742-91_3742-90insCT
XM_017018829.1:c.3739-91_3739-90insCT	XP_016874318.1:n.3739-91_3739-90insCT
XM_017018830.1:c.3532-91_3532-90insCT	XP_016874319.1:n.3532-91_3532-90insCT
XM_017018831.2:c.3052-91_3052-90insCT	XP_016874320.1:n.3052-91_3052-90insCT
NM_001844.5:c.3598-91_3598-90insCT MANE Select	NP_001835.3:n.3598-91_3598-90insCT
NM_033150.3:c.3391-91_3391-90insCT	NP_149162.2:n.3391-91_3391-90insCT