Canonical Allele Identifier: CA2795861327

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977806_47977807insA , CM000674.2:g.47977806_47977807insA	GRCh38
NC_000012.11:g.48371589_48371590insA , CM000674.1:g.48371589_48371590insA	GRCh37
NC_000012.10:g.46657856_46657857insA	NCBI36
NG_008072.1:g.31696_31697insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2905-154_2905-153insT	ENSP00000338213.6:n.2905-154_2905-153insT
ENST00000380518.8:c.3112-154_3112-153insT MANE Select	ENSP00000369889.3:n.3112-154_3112-153insT
ENST00000337299.6:c.2905-154_2905-153insT	ENSP00000338213.6:n.2905-154_2905-153insT
ENST00000380518.7:c.3112-154_3112-153insT	ENSP00000369889.3:n.3112-154_3112-153insT
ENST00000493991.5:n.2198-154_2198-153insT
NM_001844.4:c.3112-154_3112-153insT	NP_001835.3:n.3112-154_3112-153insT
NM_033150.2:c.2905-154_2905-153insT	NP_149162.2:n.2905-154_2905-153insT
XM_006719242.2:c.3256-154_3256-153insT	XP_006719305.2:n.3256-154_3256-153insT
XM_011537928.1:c.3256-154_3256-153insT	XP_011536230.1:n.3256-154_3256-153insT
XM_011537929.1:c.3256-154_3256-153insT	XP_011536231.1:n.3256-154_3256-153insT
XM_011537930.1:c.3256-154_3256-153insT	XP_011536232.1:n.3256-154_3256-153insT
XM_011537931.1:c.3256-154_3256-153insT	XP_011536233.1:n.3256-154_3256-153insT
XM_011537932.1:c.3256-154_3256-153insT	XP_011536234.1:n.3256-154_3256-153insT
XM_011537933.1:c.3256-154_3256-153insT	XP_011536235.1:n.3256-154_3256-153insT
XM_011537934.1:c.3253-154_3253-153insT	XP_011536236.1:n.3253-154_3253-153insT
XM_011537935.1:c.2200-154_2200-153insT	XP_011536237.1:n.2200-154_2200-153insT
XM_017018828.1:c.3256-154_3256-153insT	XP_016874317.1:n.3256-154_3256-153insT
XM_017018829.1:c.3253-154_3253-153insT	XP_016874318.1:n.3253-154_3253-153insT
XM_017018830.1:c.3046-154_3046-153insT	XP_016874319.1:n.3046-154_3046-153insT
XM_017018831.2:c.2566-154_2566-153insT	XP_016874320.1:n.2566-154_2566-153insT
NM_001844.5:c.3112-154_3112-153insT MANE Select	NP_001835.3:n.3112-154_3112-153insT
NM_033150.3:c.2905-154_2905-153insT	NP_149162.2:n.2905-154_2905-153insT