Canonical Allele Identifier: CA791394

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303181C>A , CM000663.2:g.40303181C>A	GRCh38
NC_000001.10:g.40768853C>A , CM000663.1:g.40768853C>A	GRCh37
NC_000001.9:g.40541440C>A	NCBI36
NG_008031.1:g.19087G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1553G>T MANE Select	NP_001843.1:p.Arg518Leu
ENST00000372748.8:c.1553G>T MANE Select	ENSP00000361834.3:p.Arg518Leu
NM_001852.3:c.1553G>T	NP_001843.1:p.Arg518Leu
ENST00000372748.7:c.1553G>T	ENSP00000361834.3:p.Arg518Leu
ENST00000427563.1:c.359+349G>T	ENSP00000407377.1:n.359+349G>T
ENST00000466267.1:n.518G>T
ENST00000482722.5:n.1856G>T
XM_006710365.2:c.1553G>T	XP_006710428.1:p.Arg518Leu
XM_006710365.3:c.1553G>T	XP_006710428.1:p.Arg518Leu
XM_011540714.1:c.1565G>T	XP_011539016.1:p.Arg522Leu
XM_011540715.1:c.1283G>T	XP_011539017.1:p.Arg428Leu
XM_011540715.2:c.1283G>T	XP_011539017.1:p.Arg428Leu
XM_011540716.1:c.1283G>T	XP_011539018.1:p.Arg428Leu
XM_011540716.2:c.1283G>T	XP_011539018.1:p.Arg428Leu
XM_011540717.1:c.1010G>T	XP_011539019.1:p.Arg337Leu
XM_011540717.2:c.1010G>T	XP_011539019.1:p.Arg337Leu
XM_017000332.1:c.1565G>T	XP_016855821.1:p.Arg522Leu
XM_017000333.1:c.1271G>T	XP_016855822.1:p.Arg424Leu