Canonical Allele Identifier: CA2580085499

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2440289
• ClinVar RCV Id: RCV003141687

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986046C>T , CM000674.2:g.47986046C>T	GRCh38
NC_000012.11:g.48379829C>T , CM000674.1:g.48379829C>T	GRCh37
NC_000012.10:g.46666096C>T	NCBI36
NG_008072.1:g.23457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1321-81G>A	ENSP00000338213.6:n.1321-81G>A
ENST00000380518.8:c.1528-81G>A MANE Select	ENSP00000369889.3:n.1528-81G>A
ENST00000337299.6:c.1321-81G>A	ENSP00000338213.6:n.1321-81G>A
ENST00000380518.7:c.1528-81G>A	ENSP00000369889.3:n.1528-81G>A
ENST00000493991.5:n.452-81G>A
NM_001844.4:c.1528-81G>A	NP_001835.3:n.1528-81G>A
NM_033150.2:c.1321-81G>A	NP_149162.2:n.1321-81G>A
XM_006719242.2:c.1672-81G>A	XP_006719305.2:n.1672-81G>A
XM_011537928.1:c.1672-81G>A	XP_011536230.1:n.1672-81G>A
XM_011537929.1:c.1672-81G>A	XP_011536231.1:n.1672-81G>A
XM_011537930.1:c.1672-81G>A	XP_011536232.1:n.1672-81G>A
XM_011537931.1:c.1672-81G>A	XP_011536233.1:n.1672-81G>A
XM_011537932.1:c.1672-81G>A	XP_011536234.1:n.1672-81G>A
XM_011537933.1:c.1672-81G>A	XP_011536235.1:n.1672-81G>A
XM_011537934.1:c.1669-81G>A	XP_011536236.1:n.1669-81G>A
XM_011537935.1:c.616-81G>A	XP_011536237.1:n.616-81G>A
XM_017018828.1:c.1672-81G>A	XP_016874317.1:n.1672-81G>A
XM_017018829.1:c.1669-81G>A	XP_016874318.1:n.1669-81G>A
XM_017018830.1:c.1462-81G>A	XP_016874319.1:n.1462-81G>A
XM_017018831.2:c.982-81G>A	XP_016874320.1:n.982-81G>A
NM_001844.5:c.1528-81G>A MANE Select	NP_001835.3:n.1528-81G>A
NM_033150.3:c.1321-81G>A	NP_149162.2:n.1321-81G>A