Canonical Allele Identifier: CA915948409

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 692014
• ClinVar RCV Id: RCV000853283
• dbSNP Id: rs1592202517

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978385_47978386dup , CM000674.2:g.47978385_47978386dup	GRCh38
NC_000012.11:g.48372168_48372169dup , CM000674.1:g.48372168_48372169dup	GRCh37
NC_000012.10:g.46658435_46658436dup	NCBI36
NG_008072.1:g.31117_31118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2701_2702dup	ENSP00000338213.6:p.Pro902HisfsTer?
ENST00000380518.8:c.2908_2909dup MANE Select	ENSP00000369889.3:p.Pro971HisfsTer?
ENST00000337299.6:c.2701_2702dup	ENSP00000338213.6:p.Pro902HisfsTer?
ENST00000380518.7:c.2908_2909dup	ENSP00000369889.3:p.Pro971HisfsTer?
ENST00000493991.5:n.1994_1995dup
NM_001844.4:c.2908_2909dup	NP_001835.3:p.Pro971HisfsTer?
NM_033150.2:c.2701_2702dup	NP_149162.2:p.Pro902HisfsTer?
XM_006719242.2:c.3052_3053dup	XP_006719305.2:p.Pro1019HisfsTer?
XM_011537928.1:c.3052_3053dup	XP_011536230.1:p.Pro1019HisfsTer?
XM_011537929.1:c.3052_3053dup	XP_011536231.1:p.Pro1019HisfsTer?
XM_011537930.1:c.3052_3053dup	XP_011536232.1:p.Pro1019HisfsTer?
XM_011537931.1:c.3052_3053dup	XP_011536233.1:p.Pro1019HisfsTer?
XM_011537932.1:c.3052_3053dup	XP_011536234.1:p.Pro1019HisfsTer?
XM_011537933.1:c.3052_3053dup	XP_011536235.1:p.Pro1019HisfsTer?
XM_011537934.1:c.3049_3050dup	XP_011536236.1:p.Pro1018HisfsTer?
XM_011537935.1:c.1996_1997dup	XP_011536237.1:p.Pro667HisfsTer?
XM_017018828.1:c.3052_3053dup	XP_016874317.1:p.Pro1019HisfsTer?
XM_017018829.1:c.3049_3050dup	XP_016874318.1:p.Pro1018HisfsTer?
XM_017018830.1:c.2842_2843dup	XP_016874319.1:p.Pro949HisfsTer?
XM_017018831.2:c.2362_2363dup	XP_016874320.1:p.Pro789HisfsTer?
NM_001844.5:c.2908_2909dup MANE Select	NP_001835.3:p.Pro971HisfsTer?
NM_033150.3:c.2701_2702dup	NP_149162.2:p.Pro902HisfsTer?