Canonical Allele Identifier: CA384538793

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1465997
• ClinVar RCV Id: RCV001963858
• dbSNP Id: rs2136518300
• MyVariant Identifiers: chr12:g.48370630C>T (hg19) ; chr12:g.47976847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47976847C>T , CM000674.2:g.47976847C>T	GRCh38
NC_000012.11:g.48370630C>T , CM000674.1:g.48370630C>T	GRCh37
NC_000012.10:g.46656897C>T	NCBI36
NG_008072.1:g.32656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3193G>A	ENSP00000338213.6:p.Gly1065Ser
ENST00000380518.8:c.3400G>A MANE Select	ENSP00000369889.3:p.Gly1134Ser
ENST00000337299.6:c.3193G>A	ENSP00000338213.6:p.Gly1065Ser
ENST00000380518.7:c.3400G>A	ENSP00000369889.3:p.Gly1134Ser
ENST00000493991.5:n.2486G>A
ENST00000546974.1:n.253G>A
NM_001844.4:c.3400G>A	NP_001835.3:p.Gly1134Ser
NM_033150.2:c.3193G>A	NP_149162.2:p.Gly1065Ser
XM_006719242.2:c.3544G>A	XP_006719305.2:p.Gly1182Ser
XM_011537928.1:c.3544G>A	XP_011536230.1:p.Gly1182Ser
XM_011537929.1:c.3544G>A	XP_011536231.1:p.Gly1182Ser
XM_011537930.1:c.3544G>A	XP_011536232.1:p.Gly1182Ser
XM_011537931.1:c.3544G>A	XP_011536233.1:p.Gly1182Ser
XM_011537932.1:c.3544G>A	XP_011536234.1:p.Gly1182Ser
XM_011537933.1:c.3544G>A	XP_011536235.1:p.Gly1182Ser
XM_011537934.1:c.3541G>A	XP_011536236.1:p.Gly1181Ser
XM_011537935.1:c.2488G>A	XP_011536237.1:p.Gly830Ser
XM_017018828.1:c.3544G>A	XP_016874317.1:p.Gly1182Ser
XM_017018829.1:c.3541G>A	XP_016874318.1:p.Gly1181Ser
XM_017018830.1:c.3334G>A	XP_016874319.1:p.Gly1112Ser
XM_017018831.2:c.2854G>A	XP_016874320.1:p.Gly952Ser
NM_001844.5:c.3400G>A MANE Select	NP_001835.3:p.Gly1134Ser
NM_033150.3:c.3193G>A	NP_149162.2:p.Gly1065Ser