Canonical Allele Identifier: CA791534

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40304402A>G , CM000663.2:g.40304402A>G	GRCh38
NC_000001.10:g.40770074A>G , CM000663.1:g.40770074A>G	GRCh37
NC_000001.9:g.40542661A>G	NCBI36
NG_008031.1:g.17866T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1216-11T>C MANE Select	NP_001843.1:n.1216-11T>C
ENST00000372748.8:c.1216-11T>C MANE Select	ENSP00000361834.3:n.1216-11T>C
NM_001852.3:c.1216-11T>C	NP_001843.1:n.1216-11T>C
ENST00000372748.7:c.1216-11T>C	ENSP00000361834.3:n.1216-11T>C
ENST00000427563.1:c.27-11T>C	ENSP00000407377.1:n.27-11T>C
ENST00000466267.1:n.181-11T>C
ENST00000482722.5:n.1519-11T>C
XM_006710365.2:c.1216-11T>C	XP_006710428.1:n.1216-11T>C
XM_006710365.3:c.1216-11T>C	XP_006710428.1:n.1216-11T>C
XM_011540714.1:c.1228-11T>C	XP_011539016.1:n.1228-11T>C
XM_011540715.1:c.946-11T>C	XP_011539017.1:n.946-11T>C
XM_011540715.2:c.946-11T>C	XP_011539017.1:n.946-11T>C
XM_011540716.1:c.946-11T>C	XP_011539018.1:n.946-11T>C
XM_011540716.2:c.946-11T>C	XP_011539018.1:n.946-11T>C
XM_011540717.1:c.673-11T>C	XP_011539019.1:n.673-11T>C
XM_011540717.2:c.673-11T>C	XP_011539019.1:n.673-11T>C
XM_017000332.1:c.1228-11T>C	XP_016855821.1:n.1228-11T>C
XM_017000333.1:c.934-11T>C	XP_016855822.1:n.934-11T>C