Canonical Allele Identifier: CA2573131897

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301793G>C , CM000663.2:g.40301793G>C	GRCh38
NC_000001.10:g.40767465G>C , CM000663.1:g.40767465G>C	GRCh37
NC_000001.9:g.40540052G>C	NCBI36
NG_008031.1:g.20475C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1870+19C>G MANE Select	NP_001843.1:n.1870+19C>G
ENST00000372748.8:c.1870+19C>G MANE Select	ENSP00000361834.3:n.1870+19C>G
NM_001852.3:c.1870+19C>G	NP_001843.1:n.1870+19C>G
ENST00000372748.7:c.1870+19C>G	ENSP00000361834.3:n.1870+19C>G
ENST00000482722.5:n.2173+19C>G
XM_006710365.2:c.1870+19C>G	XP_006710428.1:n.1870+19C>G
XM_006710365.3:c.1870+19C>G	XP_006710428.1:n.1870+19C>G
XM_011540714.1:c.1882+19C>G	XP_011539016.1:n.1882+19C>G
XM_011540715.1:c.1600+19C>G	XP_011539017.1:n.1600+19C>G
XM_011540715.2:c.1600+19C>G	XP_011539017.1:n.1600+19C>G
XM_011540716.1:c.1600+19C>G	XP_011539018.1:n.1600+19C>G
XM_011540716.2:c.1600+19C>G	XP_011539018.1:n.1600+19C>G
XM_011540717.1:c.1327+19C>G	XP_011539019.1:n.1327+19C>G
XM_011540717.2:c.1327+19C>G	XP_011539019.1:n.1327+19C>G
XM_017000332.1:c.1882+19C>G	XP_016855821.1:n.1882+19C>G
XM_017000333.1:c.1588+19C>G	XP_016855822.1:n.1588+19C>G