Canonical Allele Identifier: CA384540455

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48371197T>G (hg19) ; chr12:g.47977414T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977414T>G , CM000674.2:g.47977414T>G	GRCh38
NC_000012.11:g.48371197T>G , CM000674.1:g.48371197T>G	GRCh37
NC_000012.10:g.46657464T>G	NCBI36
NG_008072.1:g.32089A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2972A>C	ENSP00000338213.6:p.Glu991Ala
ENST00000380518.8:c.3179A>C MANE Select	ENSP00000369889.3:p.Glu1060Ala
ENST00000337299.6:c.2972A>C	ENSP00000338213.6:p.Glu991Ala
ENST00000380518.7:c.3179A>C	ENSP00000369889.3:p.Glu1060Ala
ENST00000493991.5:n.2265A>C
ENST00000546974.1:n.32A>C
NM_001844.4:c.3179A>C	NP_001835.3:p.Glu1060Ala
NM_033150.2:c.2972A>C	NP_149162.2:p.Glu991Ala
XM_006719242.2:c.3323A>C	XP_006719305.2:p.Glu1108Ala
XM_011537928.1:c.3323A>C	XP_011536230.1:p.Glu1108Ala
XM_011537929.1:c.3323A>C	XP_011536231.1:p.Glu1108Ala
XM_011537930.1:c.3323A>C	XP_011536232.1:p.Glu1108Ala
XM_011537931.1:c.3323A>C	XP_011536233.1:p.Glu1108Ala
XM_011537932.1:c.3323A>C	XP_011536234.1:p.Glu1108Ala
XM_011537933.1:c.3323A>C	XP_011536235.1:p.Glu1108Ala
XM_011537934.1:c.3320A>C	XP_011536236.1:p.Glu1107Ala
XM_011537935.1:c.2267A>C	XP_011536237.1:p.Glu756Ala
XM_017018828.1:c.3323A>C	XP_016874317.1:p.Glu1108Ala
XM_017018829.1:c.3320A>C	XP_016874318.1:p.Glu1107Ala
XM_017018830.1:c.3113A>C	XP_016874319.1:p.Glu1038Ala
XM_017018831.2:c.2633A>C	XP_016874320.1:p.Glu878Ala
NM_001844.5:c.3179A>C MANE Select	NP_001835.3:p.Glu1060Ala
NM_033150.3:c.2972A>C	NP_149162.2:p.Glu991Ala