Canonical Allele Identifier: CA2580085676

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2025723
• ClinVar RCV Id: RCV002853365

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975584dup , CM000674.2:g.47975584dup	GRCh38
NC_000012.11:g.48369367dup , CM000674.1:g.48369367dup	GRCh37
NC_000012.10:g.46655634dup	NCBI36
NG_008072.1:g.33923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3416dup	ENSP00000338213.6:p.Gly1140TrpfsTer?
ENST00000380518.8:c.3623dup MANE Select	ENSP00000369889.3:p.Gly1209TrpfsTer?
ENST00000337299.6:c.3416dup	ENSP00000338213.6:p.Gly1140TrpfsTer?
ENST00000380518.7:c.3623dup	ENSP00000369889.3:p.Gly1209TrpfsTer?
ENST00000493991.5:n.2709dup
ENST00000546974.1:n.476dup
NM_001844.4:c.3623dup	NP_001835.3:p.Gly1209TrpfsTer?
NM_033150.2:c.3416dup	NP_149162.2:p.Gly1140TrpfsTer?
XM_006719242.2:c.3767dup	XP_006719305.2:p.Gly1257TrpfsTer?
XM_011537928.1:c.3767dup	XP_011536230.1:p.Gly1257TrpfsTer?
XM_011537929.1:c.3767dup	XP_011536231.1:p.Gly1257TrpfsTer?
XM_011537930.1:c.3767dup	XP_011536232.1:p.Gly1257TrpfsTer?
XM_011537931.1:c.3767dup	XP_011536233.1:p.Gly1257TrpfsTer?
XM_011537932.1:c.3767dup	XP_011536234.1:p.Gly1257TrpfsTer?
XM_011537933.1:c.3767dup	XP_011536235.1:p.Gly1257TrpfsTer?
XM_011537934.1:c.3764dup	XP_011536236.1:p.Gly1256TrpfsTer?
XM_011537935.1:c.2711dup	XP_011536237.1:p.Gly905TrpfsTer?
XM_017018828.1:c.3767dup	XP_016874317.1:p.Gly1257TrpfsTer?
XM_017018829.1:c.3764dup	XP_016874318.1:p.Gly1256TrpfsTer?
XM_017018830.1:c.3557dup	XP_016874319.1:p.Gly1187TrpfsTer?
XM_017018831.2:c.3077dup	XP_016874320.1:p.Gly1027TrpfsTer?
NM_001844.5:c.3623dup MANE Select	NP_001835.3:p.Gly1209TrpfsTer?
NM_033150.3:c.3416dup	NP_149162.2:p.Gly1140TrpfsTer?