Canonical Allele Identifier: CA2618506764

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47975519-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975522del , CM000674.2:g.47975522del	GRCh38
NC_000012.11:g.48369305del , CM000674.1:g.48369305del	GRCh37
NC_000012.10:g.46655572del	NCBI36
NG_008072.1:g.33983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3476del	ENSP00000338213.6:p.Pro1159ArgfsTer21
ENST00000380518.8:c.3683del MANE Select	ENSP00000369889.3:p.Pro1228ArgfsTer21
ENST00000337299.6:c.3476del	ENSP00000338213.6:p.Pro1159ArgfsTer21
ENST00000380518.7:c.3683del	ENSP00000369889.3:p.Pro1228ArgfsTer21
ENST00000493991.5:n.2769del
ENST00000546974.1:n.536del
NM_001844.4:c.3683del	NP_001835.3:p.Pro1228ArgfsTer21
NM_033150.2:c.3476del	NP_149162.2:p.Pro1159ArgfsTer21
XM_006719242.2:c.3827del	XP_006719305.2:p.Pro1276ArgfsTer21
XM_011537928.1:c.3827del	XP_011536230.1:p.Pro1276ArgfsTer21
XM_011537929.1:c.3827del	XP_011536231.1:p.Pro1276ArgfsTer21
XM_011537930.1:c.3827del	XP_011536232.1:p.Pro1276ArgfsTer21
XM_011537931.1:c.3827del	XP_011536233.1:p.Pro1276ArgfsTer21
XM_011537932.1:c.3827del	XP_011536234.1:p.Pro1276ArgfsTer21
XM_011537933.1:c.3827del	XP_011536235.1:p.Pro1276ArgfsTer21
XM_011537934.1:c.3824del	XP_011536236.1:p.Pro1275ArgfsTer21
XM_011537935.1:c.2771del	XP_011536237.1:p.Pro924ArgfsTer21
XM_017018828.1:c.3827del	XP_016874317.1:p.Pro1276ArgfsTer21
XM_017018829.1:c.3824del	XP_016874318.1:p.Pro1275ArgfsTer21
XM_017018830.1:c.3617del	XP_016874319.1:p.Pro1206ArgfsTer21
XM_017018831.2:c.3137del	XP_016874320.1:p.Pro1046ArgfsTer21
NM_001844.5:c.3683del MANE Select	NP_001835.3:p.Pro1228ArgfsTer21
NM_033150.3:c.3476del	NP_149162.2:p.Pro1159ArgfsTer21