Canonical Allele Identifier: CA339879139

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 2475267
• ClinVar RCV Id: RCV003186291
• gnomAD v4: 1-40303809-G-C
• MyVariant Identifiers: chr1:g.40769481G>C (hg19) ; chr1:g.40303809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303809G>C , CM000663.2:g.40303809G>C	GRCh38
NC_000001.10:g.40769481G>C , CM000663.1:g.40769481G>C	GRCh37
NC_000001.9:g.40542068G>C	NCBI36
NG_008031.1:g.18459C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1399C>G MANE Select	ENSP00000361834.3:p.Gln467Glu
ENST00000372748.7:c.1399C>G	ENSP00000361834.3:p.Gln467Glu
ENST00000427563.1:c.210C>G	ENSP00000407377.1:p.Asp70Glu
ENST00000466267.1:n.364C>G
ENST00000482722.5:n.1702C>G
NM_001852.3:c.1399C>G	NP_001843.1:p.Gln467Glu
XM_006710365.2:c.1399C>G	XP_006710428.1:p.Gln467Glu
XM_011540714.1:c.1411C>G	XP_011539016.1:p.Gln471Glu
XM_011540715.1:c.1129C>G	XP_011539017.1:p.Gln377Glu
XM_011540716.1:c.1129C>G	XP_011539018.1:p.Gln377Glu
XM_011540717.1:c.856C>G	XP_011539019.1:p.Gln286Glu
XM_006710365.3:c.1399C>G	XP_006710428.1:p.Gln467Glu
XM_011540715.2:c.1129C>G	XP_011539017.1:p.Gln377Glu
XM_011540716.2:c.1129C>G	XP_011539018.1:p.Gln377Glu
XM_011540717.2:c.856C>G	XP_011539019.1:p.Gln286Glu
XM_017000332.1:c.1411C>G	XP_016855821.1:p.Gln471Glu
XM_017000333.1:c.1117C>G	XP_016855822.1:p.Gln373Glu
NM_001852.4:c.1399C>G MANE Select	NP_001843.1:p.Gln467Glu