Canonical Allele Identifier: CA2697559180

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2695524
• ClinVar RCV Id: RCV003542139

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977381_47977388dup , CM000674.2:g.47977381_47977388dup	GRCh38
NC_000012.11:g.48371164_48371171dup , CM000674.1:g.48371164_48371171dup	GRCh37
NC_000012.10:g.46657431_46657438dup	NCBI36
NG_008072.1:g.32120_32127dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3003_3010dup	ENSP00000338213.6:p.Pro1004LeufsTer?
ENST00000380518.8:c.3210_3217dup MANE Select	ENSP00000369889.3:p.Pro1073LeufsTer?
ENST00000337299.6:c.3003_3010dup	ENSP00000338213.6:p.Pro1004LeufsTer?
ENST00000380518.7:c.3210_3217dup	ENSP00000369889.3:p.Pro1073LeufsTer?
ENST00000493991.5:n.2296_2303dup
ENST00000546974.1:n.63_70dup
NM_001844.4:c.3210_3217dup	NP_001835.3:p.Pro1073LeufsTer?
NM_033150.2:c.3003_3010dup	NP_149162.2:p.Pro1004LeufsTer?
XM_006719242.2:c.3354_3361dup	XP_006719305.2:p.Pro1121LeufsTer?
XM_011537928.1:c.3354_3361dup	XP_011536230.1:p.Pro1121LeufsTer?
XM_011537929.1:c.3354_3361dup	XP_011536231.1:p.Pro1121LeufsTer?
XM_011537930.1:c.3354_3361dup	XP_011536232.1:p.Pro1121LeufsTer?
XM_011537931.1:c.3354_3361dup	XP_011536233.1:p.Pro1121LeufsTer?
XM_011537932.1:c.3354_3361dup	XP_011536234.1:p.Pro1121LeufsTer?
XM_011537933.1:c.3354_3361dup	XP_011536235.1:p.Pro1121LeufsTer?
XM_011537934.1:c.3351_3358dup	XP_011536236.1:p.Pro1120LeufsTer?
XM_011537935.1:c.2298_2305dup	XP_011536237.1:p.Pro769LeufsTer?
XM_017018828.1:c.3354_3361dup	XP_016874317.1:p.Pro1121LeufsTer?
XM_017018829.1:c.3351_3358dup	XP_016874318.1:p.Pro1120LeufsTer?
XM_017018830.1:c.3144_3151dup	XP_016874319.1:p.Pro1051LeufsTer?
XM_017018831.2:c.2664_2671dup	XP_016874320.1:p.Pro891LeufsTer?
NM_001844.5:c.3210_3217dup MANE Select	NP_001835.3:p.Pro1073LeufsTer?
NM_033150.3:c.3003_3010dup	NP_149162.2:p.Pro1004LeufsTer?