Canonical Allele Identifier: CA244150

Gene: COL9A2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1982C>T MANE Select	ENSP00000361834.3:p.Pro661Leu
ENST00000372748.7:c.1982C>T	ENSP00000361834.3:p.Pro661Leu
ENST00000482722.5:n.2285C>T
NM_001852.3:c.1982C>T	NP_001843.1:p.Pro661Leu
XM_006710365.2:c.1982C>T	XP_006710428.1:p.Pro661Leu
XM_011540714.1:c.1994C>T	XP_011539016.1:p.Pro665Leu
XM_011540715.1:c.1712C>T	XP_011539017.1:p.Pro571Leu
XM_011540716.1:c.1712C>T	XP_011539018.1:p.Pro571Leu
XM_011540717.1:c.1439C>T	XP_011539019.1:p.Pro480Leu
XM_006710365.3:c.1982C>T	XP_006710428.1:p.Pro661Leu
XM_011540715.2:c.1712C>T	XP_011539017.1:p.Pro571Leu
XM_011540716.2:c.1712C>T	XP_011539018.1:p.Pro571Leu
XM_011540717.2:c.1439C>T	XP_011539019.1:p.Pro480Leu
XM_017000332.1:c.1994C>T	XP_016855821.1:p.Pro665Leu
XM_017000333.1:c.1700C>T	XP_016855822.1:p.Pro567Leu
NM_001852.4:c.1982C>T MANE Select	NP_001843.1:p.Pro661Leu