Canonical Allele Identifier: CA339878064

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303568G>A , CM000663.2:g.40303568G>A	GRCh38
NC_000001.10:g.40769240G>A , CM000663.1:g.40769240G>A	GRCh37
NC_000001.9:g.40541827G>A	NCBI36
NG_008031.1:g.18700C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1510C>T MANE Select	NP_001843.1:p.Arg504Ter
ENST00000372748.8:c.1510C>T MANE Select	ENSP00000361834.3:p.Arg504Ter
NM_001852.3:c.1510C>T	NP_001843.1:p.Arg504Ter
ENST00000372748.7:c.1510C>T	ENSP00000361834.3:p.Arg504Ter
ENST00000427563.1:c.321C>T	ENSP00000407377.1:p.Thr107=
ENST00000466267.1:n.475C>T
ENST00000482722.5:n.1813C>T
XM_006710365.2:c.1510C>T	XP_006710428.1:p.Arg504Ter
XM_006710365.3:c.1510C>T	XP_006710428.1:p.Arg504Ter
XM_011540714.1:c.1522C>T	XP_011539016.1:p.Arg508Ter
XM_011540715.1:c.1240C>T	XP_011539017.1:p.Arg414Ter
XM_011540715.2:c.1240C>T	XP_011539017.1:p.Arg414Ter
XM_011540716.1:c.1240C>T	XP_011539018.1:p.Arg414Ter
XM_011540716.2:c.1240C>T	XP_011539018.1:p.Arg414Ter
XM_011540717.1:c.967C>T	XP_011539019.1:p.Arg323Ter
XM_011540717.2:c.967C>T	XP_011539019.1:p.Arg323Ter
XM_017000332.1:c.1522C>T	XP_016855821.1:p.Arg508Ter
XM_017000333.1:c.1228C>T	XP_016855822.1:p.Arg410Ter