Canonical Allele Identifier: CA1139662609

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 957997
• ClinVar RCV Id: RCV001231080
• dbSNP Id: rs1938661102

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975541del , CM000674.2:g.47975541del	GRCh38
NC_000012.11:g.48369324del , CM000674.1:g.48369324del	GRCh37
NC_000012.10:g.46655591del	NCBI36
NG_008072.1:g.33963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3456del	ENSP00000338213.6:p.Ala1153ProfsTer5
ENST00000380518.8:c.3663del MANE Select	ENSP00000369889.3:p.Ala1222ProfsTer5
ENST00000337299.6:c.3456del	ENSP00000338213.6:p.Ala1153ProfsTer5
ENST00000380518.7:c.3663del	ENSP00000369889.3:p.Ala1222ProfsTer5
ENST00000493991.5:n.2749del
ENST00000546974.1:n.516del
NM_001844.4:c.3663del	NP_001835.3:p.Ala1222ProfsTer5
NM_033150.2:c.3456del	NP_149162.2:p.Ala1153ProfsTer5
XM_006719242.2:c.3807del	XP_006719305.2:p.Ala1270ProfsTer5
XM_011537928.1:c.3807del	XP_011536230.1:p.Ala1270ProfsTer5
XM_011537929.1:c.3807del	XP_011536231.1:p.Ala1270ProfsTer5
XM_011537930.1:c.3807del	XP_011536232.1:p.Ala1270ProfsTer5
XM_011537931.1:c.3807del	XP_011536233.1:p.Ala1270ProfsTer5
XM_011537932.1:c.3807del	XP_011536234.1:p.Ala1270ProfsTer5
XM_011537933.1:c.3807del	XP_011536235.1:p.Ala1270ProfsTer5
XM_011537934.1:c.3804del	XP_011536236.1:p.Ala1269ProfsTer5
XM_011537935.1:c.2751del	XP_011536237.1:p.Ala918ProfsTer5
XM_017018828.1:c.3807del	XP_016874317.1:p.Ala1270ProfsTer5
XM_017018829.1:c.3804del	XP_016874318.1:p.Ala1269ProfsTer5
XM_017018830.1:c.3597del	XP_016874319.1:p.Ala1200ProfsTer5
XM_017018831.2:c.3117del	XP_016874320.1:p.Ala1040ProfsTer5
NM_001844.5:c.3663del MANE Select	NP_001835.3:p.Ala1222ProfsTer5
NM_033150.3:c.3456del	NP_149162.2:p.Ala1153ProfsTer5