Canonical Allele Identifier: CA21041053

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301270G>C , CM000663.2:g.40301270G>C	GRCh38
NC_000001.10:g.40766942G>C , CM000663.1:g.40766942G>C	GRCh37
NC_000001.9:g.40539529G>C	NCBI36
NG_008031.1:g.20998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1982C>G MANE Select	ENSP00000361834.3:p.Pro661Arg
ENST00000372748.7:c.1982C>G	ENSP00000361834.3:p.Pro661Arg
ENST00000482722.5:n.2285C>G
NM_001852.3:c.1982C>G	NP_001843.1:p.Pro661Arg
XM_006710365.2:c.1982C>G	XP_006710428.1:p.Pro661Arg
XM_011540714.1:c.1994C>G	XP_011539016.1:p.Pro665Arg
XM_011540715.1:c.1712C>G	XP_011539017.1:p.Pro571Arg
XM_011540716.1:c.1712C>G	XP_011539018.1:p.Pro571Arg
XM_011540717.1:c.1439C>G	XP_011539019.1:p.Pro480Arg
XM_006710365.3:c.1982C>G	XP_006710428.1:p.Pro661Arg
XM_011540715.2:c.1712C>G	XP_011539017.1:p.Pro571Arg
XM_011540716.2:c.1712C>G	XP_011539018.1:p.Pro571Arg
XM_011540717.2:c.1439C>G	XP_011539019.1:p.Pro480Arg
XM_017000332.1:c.1994C>G	XP_016855821.1:p.Pro665Arg
XM_017000333.1:c.1700C>G	XP_016855822.1:p.Pro567Arg
NM_001852.4:c.1982C>G MANE Select	NP_001843.1:p.Pro661Arg