Canonical Allele Identifier: CA791318

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301858T>C , CM000663.2:g.40301858T>C	GRCh38
NC_000001.10:g.40767530T>C , CM000663.1:g.40767530T>C	GRCh37
NC_000001.9:g.40540117T>C	NCBI36
NG_008031.1:g.20410A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1824A>G MANE Select	ENSP00000361834.3:p.Glu608=
ENST00000372748.7:c.1824A>G	ENSP00000361834.3:p.Glu608=
ENST00000466267.1:n.789A>G
ENST00000482722.5:n.2127A>G
NM_001852.3:c.1824A>G	NP_001843.1:p.Glu608=
XM_006710365.2:c.1824A>G	XP_006710428.1:p.Glu608=
XM_011540714.1:c.1836A>G	XP_011539016.1:p.Glu612=
XM_011540715.1:c.1554A>G	XP_011539017.1:p.Glu518=
XM_011540716.1:c.1554A>G	XP_011539018.1:p.Glu518=
XM_011540717.1:c.1281A>G	XP_011539019.1:p.Glu427=
XM_006710365.3:c.1824A>G	XP_006710428.1:p.Glu608=
XM_011540715.2:c.1554A>G	XP_011539017.1:p.Glu518=
XM_011540716.2:c.1554A>G	XP_011539018.1:p.Glu518=
XM_011540717.2:c.1281A>G	XP_011539019.1:p.Glu427=
XM_017000332.1:c.1836A>G	XP_016855821.1:p.Glu612=
XM_017000333.1:c.1542A>G	XP_016855822.1:p.Glu514=
NM_001852.4:c.1824A>G MANE Select	NP_001843.1:p.Glu608=