Canonical Allele Identifier: CA384540145

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48371129C>A (hg19) ; chr12:g.47977346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977346C>A , CM000674.2:g.47977346C>A	GRCh38
NC_000012.11:g.48371129C>A , CM000674.1:g.48371129C>A	GRCh37
NC_000012.10:g.46657396C>A	NCBI36
NG_008072.1:g.32157G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3040G>T	ENSP00000338213.6:p.Gly1014Cys
ENST00000380518.8:c.3247G>T MANE Select	ENSP00000369889.3:p.Gly1083Cys
ENST00000337299.6:c.3040G>T	ENSP00000338213.6:p.Gly1014Cys
ENST00000380518.7:c.3247G>T	ENSP00000369889.3:p.Gly1083Cys
ENST00000493991.5:n.2333G>T
ENST00000546974.1:n.100G>T
NM_001844.4:c.3247G>T	NP_001835.3:p.Gly1083Cys
NM_033150.2:c.3040G>T	NP_149162.2:p.Gly1014Cys
XM_006719242.2:c.3391G>T	XP_006719305.2:p.Gly1131Cys
XM_011537928.1:c.3391G>T	XP_011536230.1:p.Gly1131Cys
XM_011537929.1:c.3391G>T	XP_011536231.1:p.Gly1131Cys
XM_011537930.1:c.3391G>T	XP_011536232.1:p.Gly1131Cys
XM_011537931.1:c.3391G>T	XP_011536233.1:p.Gly1131Cys
XM_011537932.1:c.3391G>T	XP_011536234.1:p.Gly1131Cys
XM_011537933.1:c.3391G>T	XP_011536235.1:p.Gly1131Cys
XM_011537934.1:c.3388G>T	XP_011536236.1:p.Gly1130Cys
XM_011537935.1:c.2335G>T	XP_011536237.1:p.Gly779Cys
XM_017018828.1:c.3391G>T	XP_016874317.1:p.Gly1131Cys
XM_017018829.1:c.3388G>T	XP_016874318.1:p.Gly1130Cys
XM_017018830.1:c.3181G>T	XP_016874319.1:p.Gly1061Cys
XM_017018831.2:c.2701G>T	XP_016874320.1:p.Gly901Cys
NM_001844.5:c.3247G>T MANE Select	NP_001835.3:p.Gly1083Cys
NM_033150.3:c.3040G>T	NP_149162.2:p.Gly1014Cys