Canonical Allele Identifier: CA384544351

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 547841
• ClinVar RCV Id: RCV000660367
• dbSNP Id: rs886042009
• MyVariant Identifiers: chr12:g.48374344C>A (hg19) ; chr12:g.47980561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47980561C>A , CM000674.2:g.47980561C>A	GRCh38
NC_000012.11:g.48374344C>A , CM000674.1:g.48374344C>A	GRCh37
NC_000012.10:g.46660611C>A	NCBI36
NG_008072.1:g.28942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2411G>T	ENSP00000338213.6:p.Gly804Val
ENST00000380518.8:c.2618G>T MANE Select	ENSP00000369889.3:p.Gly873Val
ENST00000337299.6:c.2411G>T	ENSP00000338213.6:p.Gly804Val
ENST00000380518.7:c.2618G>T	ENSP00000369889.3:p.Gly873Val
ENST00000493991.5:n.1704G>T
NM_001844.4:c.2618G>T	NP_001835.3:p.Gly873Val
NM_033150.2:c.2411G>T	NP_149162.2:p.Gly804Val
XM_006719242.2:c.2762G>T	XP_006719305.2:p.Gly921Val
XM_011537928.1:c.2762G>T	XP_011536230.1:p.Gly921Val
XM_011537929.1:c.2762G>T	XP_011536231.1:p.Gly921Val
XM_011537930.1:c.2762G>T	XP_011536232.1:p.Gly921Val
XM_011537931.1:c.2762G>T	XP_011536233.1:p.Gly921Val
XM_011537932.1:c.2762G>T	XP_011536234.1:p.Gly921Val
XM_011537933.1:c.2762G>T	XP_011536235.1:p.Gly921Val
XM_011537934.1:c.2759G>T	XP_011536236.1:p.Gly920Val
XM_011537935.1:c.1706G>T	XP_011536237.1:p.Gly569Val
XM_017018828.1:c.2762G>T	XP_016874317.1:p.Gly921Val
XM_017018829.1:c.2759G>T	XP_016874318.1:p.Gly920Val
XM_017018830.1:c.2552G>T	XP_016874319.1:p.Gly851Val
XM_017018831.2:c.2072G>T	XP_016874320.1:p.Gly691Val
NM_001844.5:c.2618G>T MANE Select	NP_001835.3:p.Gly873Val
NM_033150.3:c.2411G>T	NP_149162.2:p.Gly804Val