Canonical Allele Identifier: CA2580085521

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2022672
• ClinVar RCV Id: RCV002852660

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978346_47978347dup , CM000674.2:g.47978346_47978347dup	GRCh38
NC_000012.11:g.48372129_48372130dup , CM000674.1:g.48372129_48372130dup	GRCh37
NC_000012.10:g.46658396_46658397dup	NCBI36
NG_008072.1:g.31156_31157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2740_2741dup	ENSP00000338213.6:p.Gly915SerfsTer?
ENST00000380518.8:c.2947_2948dup MANE Select	ENSP00000369889.3:p.Gly984SerfsTer?
ENST00000337299.6:c.2740_2741dup	ENSP00000338213.6:p.Gly915SerfsTer?
ENST00000380518.7:c.2947_2948dup	ENSP00000369889.3:p.Gly984SerfsTer?
ENST00000493991.5:n.2033_2034dup
NM_001844.4:c.2947_2948dup	NP_001835.3:p.Gly984SerfsTer?
NM_033150.2:c.2740_2741dup	NP_149162.2:p.Gly915SerfsTer?
XM_006719242.2:c.3091_3092dup	XP_006719305.2:p.Gly1032SerfsTer?
XM_011537928.1:c.3091_3092dup	XP_011536230.1:p.Gly1032SerfsTer?
XM_011537929.1:c.3091_3092dup	XP_011536231.1:p.Gly1032SerfsTer?
XM_011537930.1:c.3091_3092dup	XP_011536232.1:p.Gly1032SerfsTer?
XM_011537931.1:c.3091_3092dup	XP_011536233.1:p.Gly1032SerfsTer?
XM_011537932.1:c.3091_3092dup	XP_011536234.1:p.Gly1032SerfsTer?
XM_011537933.1:c.3091_3092dup	XP_011536235.1:p.Gly1032SerfsTer?
XM_011537934.1:c.3088_3089dup	XP_011536236.1:p.Gly1031SerfsTer?
XM_011537935.1:c.2035_2036dup	XP_011536237.1:p.Gly680SerfsTer?
XM_017018828.1:c.3091_3092dup	XP_016874317.1:p.Gly1032SerfsTer?
XM_017018829.1:c.3088_3089dup	XP_016874318.1:p.Gly1031SerfsTer?
XM_017018830.1:c.2881_2882dup	XP_016874319.1:p.Gly962SerfsTer?
XM_017018831.2:c.2401_2402dup	XP_016874320.1:p.Gly802SerfsTer?
NM_001844.5:c.2947_2948dup MANE Select	NP_001835.3:p.Gly984SerfsTer?
NM_033150.3:c.2740_2741dup	NP_149162.2:p.Gly915SerfsTer?