Canonical Allele Identifier: CA384537237

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48369388C>A (hg19) ; chr12:g.47975605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975605C>A , CM000674.2:g.47975605C>A	GRCh38
NC_000012.11:g.48369388C>A , CM000674.1:g.48369388C>A	GRCh37
NC_000012.10:g.46655655C>A	NCBI36
NG_008072.1:g.33898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3391G>T	ENSP00000338213.6:p.Gly1131Cys
ENST00000380518.8:c.3598G>T MANE Select	ENSP00000369889.3:p.Gly1200Cys
ENST00000337299.6:c.3391G>T	ENSP00000338213.6:p.Gly1131Cys
ENST00000380518.7:c.3598G>T	ENSP00000369889.3:p.Gly1200Cys
ENST00000493991.5:n.2684G>T
ENST00000546974.1:n.451G>T
NM_001844.4:c.3598G>T	NP_001835.3:p.Gly1200Cys
NM_033150.2:c.3391G>T	NP_149162.2:p.Gly1131Cys
XM_006719242.2:c.3742G>T	XP_006719305.2:p.Gly1248Cys
XM_011537928.1:c.3742G>T	XP_011536230.1:p.Gly1248Cys
XM_011537929.1:c.3742G>T	XP_011536231.1:p.Gly1248Cys
XM_011537930.1:c.3742G>T	XP_011536232.1:p.Gly1248Cys
XM_011537931.1:c.3742G>T	XP_011536233.1:p.Gly1248Cys
XM_011537932.1:c.3742G>T	XP_011536234.1:p.Gly1248Cys
XM_011537933.1:c.3742G>T	XP_011536235.1:p.Gly1248Cys
XM_011537934.1:c.3739G>T	XP_011536236.1:p.Gly1247Cys
XM_011537935.1:c.2686G>T	XP_011536237.1:p.Gly896Cys
XM_017018828.1:c.3742G>T	XP_016874317.1:p.Gly1248Cys
XM_017018829.1:c.3739G>T	XP_016874318.1:p.Gly1247Cys
XM_017018830.1:c.3532G>T	XP_016874319.1:p.Gly1178Cys
XM_017018831.2:c.3052G>T	XP_016874320.1:p.Gly1018Cys
NM_001844.5:c.3598G>T MANE Select	NP_001835.3:p.Gly1200Cys
NM_033150.3:c.3391G>T	NP_149162.2:p.Gly1131Cys