Canonical Allele Identifier: CA2795861320

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977804_47977811del , CM000674.2:g.47977804_47977811del	GRCh38
NC_000012.11:g.48371587_48371594del , CM000674.1:g.48371587_48371594del	GRCh37
NC_000012.10:g.46657854_46657861del	NCBI36
NG_008072.1:g.31693_31700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2905-157_2905-150del	ENSP00000338213.6:n.2905-157_2905-150del
ENST00000380518.8:c.3112-157_3112-150del MANE Select	ENSP00000369889.3:n.3112-157_3112-150del
ENST00000337299.6:c.2905-157_2905-150del	ENSP00000338213.6:n.2905-157_2905-150del
ENST00000380518.7:c.3112-157_3112-150del	ENSP00000369889.3:n.3112-157_3112-150del
ENST00000493991.5:n.2198-157_2198-150del
NM_001844.4:c.3112-157_3112-150del	NP_001835.3:n.3112-157_3112-150del
NM_033150.2:c.2905-157_2905-150del	NP_149162.2:n.2905-157_2905-150del
XM_006719242.2:c.3256-157_3256-150del	XP_006719305.2:n.3256-157_3256-150del
XM_011537928.1:c.3256-157_3256-150del	XP_011536230.1:n.3256-157_3256-150del
XM_011537929.1:c.3256-157_3256-150del	XP_011536231.1:n.3256-157_3256-150del
XM_011537930.1:c.3256-157_3256-150del	XP_011536232.1:n.3256-157_3256-150del
XM_011537931.1:c.3256-157_3256-150del	XP_011536233.1:n.3256-157_3256-150del
XM_011537932.1:c.3256-157_3256-150del	XP_011536234.1:n.3256-157_3256-150del
XM_011537933.1:c.3256-157_3256-150del	XP_011536235.1:n.3256-157_3256-150del
XM_011537934.1:c.3253-157_3253-150del	XP_011536236.1:n.3253-157_3253-150del
XM_011537935.1:c.2200-157_2200-150del	XP_011536237.1:n.2200-157_2200-150del
XM_017018828.1:c.3256-157_3256-150del	XP_016874317.1:n.3256-157_3256-150del
XM_017018829.1:c.3253-157_3253-150del	XP_016874318.1:n.3253-157_3253-150del
XM_017018830.1:c.3046-157_3046-150del	XP_016874319.1:n.3046-157_3046-150del
XM_017018831.2:c.2566-157_2566-150del	XP_016874320.1:n.2566-157_2566-150del
NM_001844.5:c.3112-157_3112-150del MANE Select	NP_001835.3:n.3112-157_3112-150del
NM_033150.3:c.2905-157_2905-150del	NP_149162.2:n.2905-157_2905-150del