Canonical Allele Identifier: CA2840841049

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977357dup , CM000674.2:g.47977357dup	GRCh38
NC_000012.11:g.48371140dup , CM000674.1:g.48371140dup	GRCh37
NC_000012.10:g.46657407dup	NCBI36
NG_008072.1:g.32146dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3029dup	ENSP00000338213.6:p.Gly1011TrpfsTer?
ENST00000380518.8:c.3236dup MANE Select	ENSP00000369889.3:p.Gly1080TrpfsTer?
ENST00000337299.6:c.3029dup	ENSP00000338213.6:p.Gly1011TrpfsTer?
ENST00000380518.7:c.3236dup	ENSP00000369889.3:p.Gly1080TrpfsTer?
ENST00000493991.5:n.2322dup
ENST00000546974.1:n.89dup
NM_001844.4:c.3236dup	NP_001835.3:p.Gly1080TrpfsTer?
NM_033150.2:c.3029dup	NP_149162.2:p.Gly1011TrpfsTer?
XM_006719242.2:c.3380dup	XP_006719305.2:p.Gly1128TrpfsTer?
XM_011537928.1:c.3380dup	XP_011536230.1:p.Gly1128TrpfsTer?
XM_011537929.1:c.3380dup	XP_011536231.1:p.Gly1128TrpfsTer?
XM_011537930.1:c.3380dup	XP_011536232.1:p.Gly1128TrpfsTer?
XM_011537931.1:c.3380dup	XP_011536233.1:p.Gly1128TrpfsTer?
XM_011537932.1:c.3380dup	XP_011536234.1:p.Gly1128TrpfsTer?
XM_011537933.1:c.3380dup	XP_011536235.1:p.Gly1128TrpfsTer?
XM_011537934.1:c.3377dup	XP_011536236.1:p.Gly1127TrpfsTer?
XM_011537935.1:c.2324dup	XP_011536237.1:p.Gly776TrpfsTer?
XM_017018828.1:c.3380dup	XP_016874317.1:p.Gly1128TrpfsTer?
XM_017018829.1:c.3377dup	XP_016874318.1:p.Gly1127TrpfsTer?
XM_017018830.1:c.3170dup	XP_016874319.1:p.Gly1058TrpfsTer?
XM_017018831.2:c.2690dup	XP_016874320.1:p.Gly898TrpfsTer?
NM_001844.5:c.3236dup MANE Select	NP_001835.3:p.Gly1080TrpfsTer?
NM_033150.3:c.3029dup	NP_149162.2:p.Gly1011TrpfsTer?