Canonical Allele Identifier: CA791455

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 297297
• ClinVar RCV Id: RCV000372533 ; RCV000478668 ; RCV000763903 ; RCV001315749 ; RCV003940120
• dbSNP Id: rs373264436
• ExAC: 1:40769480 T / C
• gnomAD v2: 1-40769480-T-C
• gnomAD v3: 1-40303808-T-C
• gnomAD v4: 1-40303808-T-C
• MyVariant Identifiers: chr1:g.40769480T>C (hg19) ; chr1:g.40303808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303808T>C , CM000663.2:g.40303808T>C	GRCh38
NC_000001.10:g.40769480T>C , CM000663.1:g.40769480T>C	GRCh37
NC_000001.9:g.40542067T>C	NCBI36
NG_008031.1:g.18460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1400A>G MANE Select	ENSP00000361834.3:p.Gln467Arg
ENST00000372748.7:c.1400A>G	ENSP00000361834.3:p.Gln467Arg
ENST00000427563.1:c.211A>G	ENSP00000407377.1:p.Ser71Gly
ENST00000466267.1:n.365A>G
ENST00000482722.5:n.1703A>G
NM_001852.3:c.1400A>G	NP_001843.1:p.Gln467Arg
XM_006710365.2:c.1400A>G	XP_006710428.1:p.Gln467Arg
XM_011540714.1:c.1412A>G	XP_011539016.1:p.Gln471Arg
XM_011540715.1:c.1130A>G	XP_011539017.1:p.Gln377Arg
XM_011540716.1:c.1130A>G	XP_011539018.1:p.Gln377Arg
XM_011540717.1:c.857A>G	XP_011539019.1:p.Gln286Arg
XM_006710365.3:c.1400A>G	XP_006710428.1:p.Gln467Arg
XM_011540715.2:c.1130A>G	XP_011539017.1:p.Gln377Arg
XM_011540716.2:c.1130A>G	XP_011539018.1:p.Gln377Arg
XM_011540717.2:c.857A>G	XP_011539019.1:p.Gln286Arg
XM_017000332.1:c.1412A>G	XP_016855821.1:p.Gln471Arg
XM_017000333.1:c.1118A>G	XP_016855822.1:p.Gln373Arg
NM_001852.4:c.1400A>G MANE Select	NP_001843.1:p.Gln467Arg