Canonical Allele Identifier: CA2618511154

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47977105-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977106dup , CM000674.2:g.47977106dup	GRCh38
NC_000012.11:g.48370889dup , CM000674.1:g.48370889dup	GRCh37
NC_000012.10:g.46657156dup	NCBI36
NG_008072.1:g.32397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3116dup	ENSP00000338213.6:p.Gln1040ProfsTer9
ENST00000380518.8:c.3323dup MANE Select	ENSP00000369889.3:p.Gln1109ProfsTer9
ENST00000337299.6:c.3116dup	ENSP00000338213.6:p.Gln1040ProfsTer9
ENST00000380518.7:c.3323dup	ENSP00000369889.3:p.Gln1109ProfsTer9
ENST00000493991.5:n.2409dup
ENST00000546974.1:n.176dup
NM_001844.4:c.3323dup	NP_001835.3:p.Gln1109ProfsTer9
NM_033150.2:c.3116dup	NP_149162.2:p.Gln1040ProfsTer9
XM_006719242.2:c.3467dup	XP_006719305.2:p.Gln1157ProfsTer9
XM_011537928.1:c.3467dup	XP_011536230.1:p.Gln1157ProfsTer9
XM_011537929.1:c.3467dup	XP_011536231.1:p.Gln1157ProfsTer9
XM_011537930.1:c.3467dup	XP_011536232.1:p.Gln1157ProfsTer9
XM_011537931.1:c.3467dup	XP_011536233.1:p.Gln1157ProfsTer9
XM_011537932.1:c.3467dup	XP_011536234.1:p.Gln1157ProfsTer9
XM_011537933.1:c.3467dup	XP_011536235.1:p.Gln1157ProfsTer9
XM_011537934.1:c.3464dup	XP_011536236.1:p.Gln1156ProfsTer9
XM_011537935.1:c.2411dup	XP_011536237.1:p.Gln805ProfsTer9
XM_017018828.1:c.3467dup	XP_016874317.1:p.Gln1157ProfsTer9
XM_017018829.1:c.3464dup	XP_016874318.1:p.Gln1156ProfsTer9
XM_017018830.1:c.3257dup	XP_016874319.1:p.Gln1087ProfsTer9
XM_017018831.2:c.2777dup	XP_016874320.1:p.Gln927ProfsTer9
NM_001844.5:c.3323dup MANE Select	NP_001835.3:p.Gln1109ProfsTer9
NM_033150.3:c.3116dup	NP_149162.2:p.Gln1040ProfsTer9