Canonical Allele Identifier: CA2697559176

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2710188
• ClinVar RCV Id: RCV003550312

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975538_47975542dup , CM000674.2:g.47975538_47975542dup	GRCh38
NC_000012.11:g.48369321_48369325dup , CM000674.1:g.48369321_48369325dup	GRCh37
NC_000012.10:g.46655588_46655592dup	NCBI36
NG_008072.1:g.33961_33965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3454_3458dup	ENSP00000338213.6:p.Phe1154ProfsTer6
ENST00000380518.8:c.3661_3665dup MANE Select	ENSP00000369889.3:p.Phe1223ProfsTer6
ENST00000337299.6:c.3454_3458dup	ENSP00000338213.6:p.Phe1154ProfsTer6
ENST00000380518.7:c.3661_3665dup	ENSP00000369889.3:p.Phe1223ProfsTer6
ENST00000493991.5:n.2747_2751dup
ENST00000546974.1:n.514_518dup
NM_001844.4:c.3661_3665dup	NP_001835.3:p.Phe1223ProfsTer6
NM_033150.2:c.3454_3458dup	NP_149162.2:p.Phe1154ProfsTer6
XM_006719242.2:c.3805_3809dup	XP_006719305.2:p.Phe1271ProfsTer6
XM_011537928.1:c.3805_3809dup	XP_011536230.1:p.Phe1271ProfsTer6
XM_011537929.1:c.3805_3809dup	XP_011536231.1:p.Phe1271ProfsTer6
XM_011537930.1:c.3805_3809dup	XP_011536232.1:p.Phe1271ProfsTer6
XM_011537931.1:c.3805_3809dup	XP_011536233.1:p.Phe1271ProfsTer6
XM_011537932.1:c.3805_3809dup	XP_011536234.1:p.Phe1271ProfsTer6
XM_011537933.1:c.3805_3809dup	XP_011536235.1:p.Phe1271ProfsTer6
XM_011537934.1:c.3802_3806dup	XP_011536236.1:p.Phe1270ProfsTer6
XM_011537935.1:c.2749_2753dup	XP_011536237.1:p.Phe919ProfsTer6
XM_017018828.1:c.3805_3809dup	XP_016874317.1:p.Phe1271ProfsTer6
XM_017018829.1:c.3802_3806dup	XP_016874318.1:p.Phe1270ProfsTer6
XM_017018830.1:c.3595_3599dup	XP_016874319.1:p.Phe1201ProfsTer6
XM_017018831.2:c.3115_3119dup	XP_016874320.1:p.Phe1041ProfsTer6
NM_001844.5:c.3661_3665dup MANE Select	NP_001835.3:p.Phe1223ProfsTer6
NM_033150.3:c.3454_3458dup	NP_149162.2:p.Phe1154ProfsTer6