Canonical Allele Identifier: CA791547

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40304503C>T , CM000663.2:g.40304503C>T	GRCh38
NC_000001.10:g.40770175C>T , CM000663.1:g.40770175C>T	GRCh37
NC_000001.9:g.40542762C>T	NCBI36
NG_008031.1:g.17765G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1188G>A MANE Select	ENSP00000361834.3:p.Val396=
ENST00000372748.7:c.1188G>A	ENSP00000361834.3:p.Val396=
ENST00000466267.1:n.153G>A
ENST00000482722.5:n.1491G>A
NM_001852.3:c.1188G>A	NP_001843.1:p.Val396=
XM_006710365.2:c.1188G>A	XP_006710428.1:p.Val396=
XM_011540714.1:c.1200G>A	XP_011539016.1:p.Val400=
XM_011540715.1:c.918G>A	XP_011539017.1:p.Val306=
XM_011540716.1:c.918G>A	XP_011539018.1:p.Val306=
XM_011540717.1:c.645G>A	XP_011539019.1:p.Val215=
XM_006710365.3:c.1188G>A	XP_006710428.1:p.Val396=
XM_011540715.2:c.918G>A	XP_011539017.1:p.Val306=
XM_011540716.2:c.918G>A	XP_011539018.1:p.Val306=
XM_011540717.2:c.645G>A	XP_011539019.1:p.Val215=
XM_017000332.1:c.1200G>A	XP_016855821.1:p.Val400=
XM_017000333.1:c.906G>A	XP_016855822.1:p.Val302=
NM_001852.4:c.1188G>A MANE Select	NP_001843.1:p.Val396=