Canonical Allele Identifier: CA339874212

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301333C>G , CM000663.2:g.40301333C>G	GRCh38
NC_000001.10:g.40767005C>G , CM000663.1:g.40767005C>G	GRCh37
NC_000001.9:g.40539592C>G	NCBI36
NG_008031.1:g.20935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1919G>C MANE Select	ENSP00000361834.3:p.Arg640Pro
ENST00000372748.7:c.1919G>C	ENSP00000361834.3:p.Arg640Pro
ENST00000482722.5:n.2222G>C
NM_001852.3:c.1919G>C	NP_001843.1:p.Arg640Pro
XM_006710365.2:c.1919G>C	XP_006710428.1:p.Arg640Pro
XM_011540714.1:c.1931G>C	XP_011539016.1:p.Arg644Pro
XM_011540715.1:c.1649G>C	XP_011539017.1:p.Arg550Pro
XM_011540716.1:c.1649G>C	XP_011539018.1:p.Arg550Pro
XM_011540717.1:c.1376G>C	XP_011539019.1:p.Arg459Pro
XM_006710365.3:c.1919G>C	XP_006710428.1:p.Arg640Pro
XM_011540715.2:c.1649G>C	XP_011539017.1:p.Arg550Pro
XM_011540716.2:c.1649G>C	XP_011539018.1:p.Arg550Pro
XM_011540717.2:c.1376G>C	XP_011539019.1:p.Arg459Pro
XM_017000332.1:c.1931G>C	XP_016855821.1:p.Arg644Pro
XM_017000333.1:c.1637G>C	XP_016855822.1:p.Arg546Pro
NM_001852.4:c.1919G>C MANE Select	NP_001843.1:p.Arg640Pro