Canonical Allele Identifier: CA792062

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 451814
• ClinVar RCV Id: RCV001101134 ; RCV000734268 ; RCV003243170
• dbSNP Id: rs376722979
• ExAC: 1:40779894 C / T
• gnomAD v2: 1-40779894-C-T
• gnomAD v3: 1-40314222-C-T
• gnomAD v4: 1-40314222-C-T
• MyVariant Identifiers: chr1:g.40779894C>T (hg19) ; chr1:g.40314222C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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