Canonical Allele Identifier: CA384540453

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48371196C>G (hg19) ; chr12:g.47977413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977413C>G , CM000674.2:g.47977413C>G	GRCh38
NC_000012.11:g.48371196C>G , CM000674.1:g.48371196C>G	GRCh37
NC_000012.10:g.46657463C>G	NCBI36
NG_008072.1:g.32090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2973G>C	ENSP00000338213.6:p.Glu991Asp
ENST00000380518.8:c.3180G>C MANE Select	ENSP00000369889.3:p.Glu1060Asp
ENST00000337299.6:c.2973G>C	ENSP00000338213.6:p.Glu991Asp
ENST00000380518.7:c.3180G>C	ENSP00000369889.3:p.Glu1060Asp
ENST00000493991.5:n.2266G>C
ENST00000546974.1:n.33G>C
NM_001844.4:c.3180G>C	NP_001835.3:p.Glu1060Asp
NM_033150.2:c.2973G>C	NP_149162.2:p.Glu991Asp
XM_006719242.2:c.3324G>C	XP_006719305.2:p.Glu1108Asp
XM_011537928.1:c.3324G>C	XP_011536230.1:p.Glu1108Asp
XM_011537929.1:c.3324G>C	XP_011536231.1:p.Glu1108Asp
XM_011537930.1:c.3324G>C	XP_011536232.1:p.Glu1108Asp
XM_011537931.1:c.3324G>C	XP_011536233.1:p.Glu1108Asp
XM_011537932.1:c.3324G>C	XP_011536234.1:p.Glu1108Asp
XM_011537933.1:c.3324G>C	XP_011536235.1:p.Glu1108Asp
XM_011537934.1:c.3321G>C	XP_011536236.1:p.Glu1107Asp
XM_011537935.1:c.2268G>C	XP_011536237.1:p.Glu756Asp
XM_017018828.1:c.3324G>C	XP_016874317.1:p.Glu1108Asp
XM_017018829.1:c.3321G>C	XP_016874318.1:p.Glu1107Asp
XM_017018830.1:c.3114G>C	XP_016874319.1:p.Glu1038Asp
XM_017018831.2:c.2634G>C	XP_016874320.1:p.Glu878Asp
NM_001844.5:c.3180G>C MANE Select	NP_001835.3:p.Glu1060Asp
NM_033150.3:c.2973G>C	NP_149162.2:p.Glu991Asp