Canonical Allele Identifier: CA339873745

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301204G>C , CM000663.2:g.40301204G>C	GRCh38
NC_000001.10:g.40766876G>C , CM000663.1:g.40766876G>C	GRCh37
NC_000001.9:g.40539463G>C	NCBI36
NG_008031.1:g.21064C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.2048C>G MANE Select	NP_001843.1:p.Pro683Arg
ENST00000372748.8:c.2048C>G MANE Select	ENSP00000361834.3:p.Pro683Arg
NM_001852.3:c.2048C>G	NP_001843.1:p.Pro683Arg
ENST00000372748.7:c.2048C>G	ENSP00000361834.3:p.Pro683Arg
ENST00000482722.5:n.2351C>G
XM_006710365.2:c.2048C>G	XP_006710428.1:p.Pro683Arg
XM_006710365.3:c.2048C>G	XP_006710428.1:p.Pro683Arg
XM_011540714.1:c.2060C>G	XP_011539016.1:p.Pro687Arg
XM_011540715.1:c.1778C>G	XP_011539017.1:p.Pro593Arg
XM_011540715.2:c.1778C>G	XP_011539017.1:p.Pro593Arg
XM_011540716.1:c.1778C>G	XP_011539018.1:p.Pro593Arg
XM_011540716.2:c.1778C>G	XP_011539018.1:p.Pro593Arg
XM_011540717.1:c.1505C>G	XP_011539019.1:p.Pro502Arg
XM_011540717.2:c.1505C>G	XP_011539019.1:p.Pro502Arg
XM_017000332.1:c.2060C>G	XP_016855821.1:p.Pro687Arg
XM_017000333.1:c.1766C>G	XP_016855822.1:p.Pro589Arg