Canonical Allele Identifier: CA791347

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40302660C>T , CM000663.2:g.40302660C>T	GRCh38
NC_000001.10:g.40768332C>T , CM000663.1:g.40768332C>T	GRCh37
NC_000001.9:g.40540919C>T	NCBI36
NG_008031.1:g.19608G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1753G>A MANE Select	NP_001843.1:p.Val585Met
ENST00000372748.8:c.1753G>A MANE Select	ENSP00000361834.3:p.Val585Met
NM_001852.3:c.1753G>A	NP_001843.1:p.Val585Met
ENST00000372748.7:c.1753G>A	ENSP00000361834.3:p.Val585Met
ENST00000427563.1:c.509G>A	ENSP00000407377.1:p.Arg170His
ENST00000466267.1:n.718G>A
ENST00000482722.5:n.2056G>A
XM_006710365.2:c.1753G>A	XP_006710428.1:p.Val585Met
XM_006710365.3:c.1753G>A	XP_006710428.1:p.Val585Met
XM_011540714.1:c.1765G>A	XP_011539016.1:p.Val589Met
XM_011540715.1:c.1483G>A	XP_011539017.1:p.Val495Met
XM_011540715.2:c.1483G>A	XP_011539017.1:p.Val495Met
XM_011540716.1:c.1483G>A	XP_011539018.1:p.Val495Met
XM_011540716.2:c.1483G>A	XP_011539018.1:p.Val495Met
XM_011540717.1:c.1210G>A	XP_011539019.1:p.Val404Met
XM_011540717.2:c.1210G>A	XP_011539019.1:p.Val404Met
XM_017000332.1:c.1765G>A	XP_016855821.1:p.Val589Met
XM_017000333.1:c.1471G>A	XP_016855822.1:p.Val491Met