Canonical Allele Identifier: CA384533513

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48367930T>A (hg19) ; chr12:g.47974147T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974147T>A , CM000674.2:g.47974147T>A	GRCh38
NC_000012.11:g.48367930T>A , CM000674.1:g.48367930T>A	GRCh37
NC_000012.10:g.46654197T>A	NCBI36
NG_008072.1:g.35356A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4052A>T	ENSP00000338213.6:p.Glu1351Val
ENST00000380518.8:c.4259A>T MANE Select	ENSP00000369889.3:p.Glu1420Val
ENST00000337299.6:c.4052A>T	ENSP00000338213.6:p.Glu1351Val
ENST00000380518.7:c.4259A>T	ENSP00000369889.3:p.Glu1420Val
ENST00000493991.5:n.3345A>T
NM_001844.4:c.4259A>T	NP_001835.3:p.Glu1420Val
NM_033150.2:c.4052A>T	NP_149162.2:p.Glu1351Val
XM_006719242.2:c.4403A>T	XP_006719305.2:p.Glu1468Val
XM_011537928.1:c.4403A>T	XP_011536230.1:p.Glu1468Val
XM_011537929.1:c.4403A>T	XP_011536231.1:p.Glu1468Val
XM_011537930.1:c.4403A>T	XP_011536232.1:p.Glu1468Val
XM_011537931.1:c.4403A>T	XP_011536233.1:p.Glu1468Val
XM_011537932.1:c.4403A>T	XP_011536234.1:p.Glu1468Val
XM_011537933.1:c.4403A>T	XP_011536235.1:p.Glu1468Val
XM_011537934.1:c.4400A>T	XP_011536236.1:p.Glu1467Val
XM_011537935.1:c.3347A>T	XP_011536237.1:p.Glu1116Val
XM_017018828.1:c.4403A>T	XP_016874317.1:p.Glu1468Val
XM_017018829.1:c.4400A>T	XP_016874318.1:p.Glu1467Val
XM_017018830.1:c.4193A>T	XP_016874319.1:p.Glu1398Val
XM_017018831.2:c.3713A>T	XP_016874320.1:p.Glu1238Val
NM_001844.5:c.4259A>T MANE Select	NP_001835.3:p.Glu1420Val
NM_033150.3:c.4052A>T	NP_149162.2:p.Glu1351Val