Canonical Allele Identifier: CA384533064

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2865973
• ClinVar RCV Id: RCV003704964
• MyVariant Identifiers: chr12:g.48367191T>G (hg19) ; chr12:g.47973408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47973408T>G , CM000674.2:g.47973408T>G	GRCh38
NC_000012.11:g.48367191T>G , CM000674.1:g.48367191T>G	GRCh37
NC_000012.10:g.46653458T>G	NCBI36
NG_008072.1:g.36095A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.4256A>C	ENSP00000338213.6:p.Ter1419Ser
ENST00000380518.8:c.4463A>C MANE Select	ENSP00000369889.3:p.Ter1488Ser
ENST00000337299.6:c.4256A>C	ENSP00000338213.6:p.Ter1419Ser
ENST00000380518.7:c.4463A>C	ENSP00000369889.3:p.Ter1488Ser
ENST00000493991.5:n.3549A>C
NM_001844.4:c.4463A>C	NP_001835.3:p.Ter1488Ser
NM_033150.2:c.4256A>C	NP_149162.2:p.Ter1419Ser
XM_006719242.2:c.4607A>C	XP_006719305.2:p.Ter1536Ser
XM_011537928.1:c.4607A>C	XP_011536230.1:p.Ter1536Ser
XM_011537929.1:c.4607A>C	XP_011536231.1:p.Ter1536Ser
XM_011537930.1:c.4607A>C	XP_011536232.1:p.Ter1536Ser
XM_011537931.1:c.4607A>C	XP_011536233.1:p.Ter1536Ser
XM_011537932.1:c.4607A>C	XP_011536234.1:p.Ter1536Ser
XM_011537933.1:c.4607A>C	XP_011536235.1:p.Ter1536Ser
XM_011537934.1:c.4604A>C	XP_011536236.1:p.Ter1535Ser
XM_011537935.1:c.3551A>C	XP_011536237.1:p.Ter1184Ser
XM_017018828.1:c.4607A>C	XP_016874317.1:p.Ter1536Ser
XM_017018829.1:c.4604A>C	XP_016874318.1:p.Ter1535Ser
XM_017018830.1:c.4397A>C	XP_016874319.1:p.Ter1466Ser
XM_017018831.2:c.3917A>C	XP_016874320.1:p.Ter1306Ser
NM_001844.5:c.4463A>C MANE Select	NP_001835.3:p.Ter1488Ser
NM_033150.3:c.4256A>C	NP_149162.2:p.Ter1419Ser