Canonical Allele Identifier: CA339858382

Gene: COL9A2

Linked Data

• MyVariant Identifiers: chr1:g.40779894C>G (hg19) ; chr1:g.40314222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40314222C>G , CM000663.2:g.40314222C>G	GRCh38
NC_000001.10:g.40779894C>G , CM000663.1:g.40779894C>G	GRCh37
NC_000001.9:g.40552481C>G	NCBI36
NG_008031.1:g.8046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.232G>C MANE Select	ENSP00000361834.3:p.Gly78Arg
ENST00000417105.6:c.-51G>C	ENSP00000388493.2:n.-51G>C
ENST00000461118.6:n.798G>C
ENST00000488463.6:n.283G>C
ENST00000642679.1:c.-51G>C	ENSP00000495407.1:n.-51G>C
ENST00000372736.3:c.150+1368G>C	ENSP00000361821.3:n.150+1368G>C
ENST00000372748.7:c.232G>C	ENSP00000361834.3:p.Gly78Arg
ENST00000417105.5:c.197G>C
ENST00000461118.5:n.801G>C
ENST00000482722.5:n.192G>C
ENST00000488463.5:n.283G>C
ENST00000496215.5:n.381G>C
NM_001852.3:c.232G>C	NP_001843.1:p.Gly78Arg
XM_006710365.2:c.232G>C	XP_006710428.1:p.Gly78Arg
XM_011540714.1:c.232G>C	XP_011539016.1:p.Gly78Arg
XM_011540715.1:c.-51G>C	XP_011539017.1:n.-51G>C
XM_011540716.1:c.-51G>C	XP_011539018.1:n.-51G>C
XM_011540717.1:c.-655G>C	XP_011539019.1:n.-655G>C
XM_011540718.1:c.232G>C	XP_011539020.1:p.Gly78Arg
XM_006710365.3:c.232G>C	XP_006710428.1:p.Gly78Arg
XM_011540715.2:c.-51G>C	XP_011539017.1:n.-51G>C
XM_011540716.2:c.-51G>C	XP_011539018.1:n.-51G>C
XM_011540717.2:c.-655G>C	XP_011539019.1:n.-655G>C
XM_017000332.1:c.232G>C	XP_016855821.1:p.Gly78Arg
XM_017000333.1:c.-51G>C	XP_016855822.1:n.-51G>C
NM_001852.4:c.232G>C MANE Select	NP_001843.1:p.Gly78Arg