Canonical Allele Identifier: CA384523659

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48389507C>T (hg19) ; chr12:g.47995724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995724C>T , CM000674.2:g.47995724C>T	GRCh38
NC_000012.11:g.48389507C>T , CM000674.1:g.48389507C>T	GRCh37
NC_000012.10:g.46675774C>T	NCBI36
NG_008072.1:g.13779G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.487G>A	ENSP00000338213.6:p.Glu163Lys
ENST00000380518.8:c.694G>A MANE Select	ENSP00000369889.3:p.Glu232Lys
ENST00000337299.6:c.487G>A	ENSP00000338213.6:p.Glu163Lys
ENST00000380518.7:c.694G>A	ENSP00000369889.3:p.Glu232Lys
NM_001844.4:c.694G>A	NP_001835.3:p.Glu232Lys
NM_033150.2:c.487G>A	NP_149162.2:p.Glu163Lys
XM_006719242.2:c.838G>A	XP_006719305.2:p.Glu280Lys
XM_011537928.1:c.838G>A	XP_011536230.1:p.Glu280Lys
XM_011537929.1:c.838G>A	XP_011536231.1:p.Glu280Lys
XM_011537930.1:c.838G>A	XP_011536232.1:p.Glu280Lys
XM_011537931.1:c.838G>A	XP_011536233.1:p.Glu280Lys
XM_011537932.1:c.838G>A	XP_011536234.1:p.Glu280Lys
XM_011537933.1:c.838G>A	XP_011536235.1:p.Glu280Lys
XM_011537934.1:c.835G>A	XP_011536236.1:p.Glu279Lys
XM_017018828.1:c.838G>A	XP_016874317.1:p.Glu280Lys
XM_017018829.1:c.835G>A	XP_016874318.1:p.Glu279Lys
XM_017018830.1:c.628G>A	XP_016874319.1:p.Glu210Lys
XM_017018831.2:c.148G>A	XP_016874320.1:p.Glu50Lys
NM_001844.5:c.694G>A MANE Select	NP_001835.3:p.Glu232Lys
NM_033150.3:c.487G>A	NP_149162.2:p.Glu163Lys