Canonical Allele Identifier: CA1164335125

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301302A= , CM000663.2:g.40301302A=	GRCh38
NC_000001.10:g.40766974A= , CM000663.1:g.40766974A=	GRCh37
NC_000001.9:g.40539561A=	NCBI36
NG_008031.1:g.20966T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1950T= MANE Select	ENSP00000361834.3:p.Gly650=
ENST00000372748.7:c.1950T=	ENSP00000361834.3:p.Gly650=
ENST00000482722.5:n.2253T=
NM_001852.3:c.1950T=	NP_001843.1:p.Gly650=
XM_006710365.2:c.1950T=	XP_006710428.1:p.Gly650=
XM_011540714.1:c.1962T=	XP_011539016.1:p.Gly654=
XM_011540715.1:c.1680T=	XP_011539017.1:p.Gly560=
XM_011540716.1:c.1680T=	XP_011539018.1:p.Gly560=
XM_011540717.1:c.1407T=	XP_011539019.1:p.Gly469=
XM_006710365.3:c.1950T=	XP_006710428.1:p.Gly650=
XM_011540715.2:c.1680T=	XP_011539017.1:p.Gly560=
XM_011540716.2:c.1680T=	XP_011539018.1:p.Gly560=
XM_011540717.2:c.1407T=	XP_011539019.1:p.Gly469=
XM_017000332.1:c.1962T=	XP_016855821.1:p.Gly654=
XM_017000333.1:c.1668T=	XP_016855822.1:p.Gly556=
NM_001852.4:c.1950T= MANE Select	NP_001843.1:p.Gly650=