Canonical Allele Identifier: CA1139662598

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 988421
• ClinVar RCV Id: RCV001269769
• dbSNP Id: rs1939938528

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995895dup , CM000674.2:g.47995895dup	GRCh38
NC_000012.11:g.48389678dup , CM000674.1:g.48389678dup	GRCh37
NC_000012.10:g.46675945dup	NCBI36
NG_008072.1:g.13609dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.428dup	ENSP00000338213.6:p.Gly144ArgfsTer17
ENST00000380518.8:c.635dup MANE Select	ENSP00000369889.3:p.Gly213ArgfsTer17
ENST00000337299.6:c.428dup	ENSP00000338213.6:p.Gly144ArgfsTer17
ENST00000380518.7:c.635dup	ENSP00000369889.3:p.Gly213ArgfsTer17
NM_001844.4:c.635dup	NP_001835.3:p.Gly213ArgfsTer17
NM_033150.2:c.428dup	NP_149162.2:p.Gly144ArgfsTer17
XM_006719242.2:c.779dup	XP_006719305.2:p.Gly261ArgfsTer17
XM_011537928.1:c.779dup	XP_011536230.1:p.Gly261ArgfsTer17
XM_011537929.1:c.779dup	XP_011536231.1:p.Gly261ArgfsTer17
XM_011537930.1:c.779dup	XP_011536232.1:p.Gly261ArgfsTer17
XM_011537931.1:c.779dup	XP_011536233.1:p.Gly261ArgfsTer17
XM_011537932.1:c.779dup	XP_011536234.1:p.Gly261ArgfsTer17
XM_011537933.1:c.779dup	XP_011536235.1:p.Gly261ArgfsTer17
XM_011537934.1:c.776dup	XP_011536236.1:p.Gly260ArgfsTer17
XM_017018828.1:c.779dup	XP_016874317.1:p.Gly261ArgfsTer17
XM_017018829.1:c.776dup	XP_016874318.1:p.Gly260ArgfsTer17
XM_017018830.1:c.569dup	XP_016874319.1:p.Gly191ArgfsTer17
XM_017018831.2:c.89dup	XP_016874320.1:p.Gly31ArgfsTer17
NM_001844.5:c.635dup MANE Select	NP_001835.3:p.Gly213ArgfsTer17
NM_033150.3:c.428dup	NP_149162.2:p.Gly144ArgfsTer17