Canonical Allele Identifier: CA339879244

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 2091356
• ClinVar RCV Id: RCV003013567
• gnomAD v4: 1-40303820-C-T
• MyVariant Identifiers: chr1:g.40769492C>T (hg19) ; chr1:g.40303820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303820C>T , CM000663.2:g.40303820C>T	GRCh38
NC_000001.10:g.40769492C>T , CM000663.1:g.40769492C>T	GRCh37
NC_000001.9:g.40542079C>T	NCBI36
NG_008031.1:g.18448G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1388G>A MANE Select	ENSP00000361834.3:p.Gly463Glu
ENST00000372748.7:c.1388G>A	ENSP00000361834.3:p.Gly463Glu
ENST00000427563.1:c.199G>A	ENSP00000407377.1:p.Gly67Ser
ENST00000466267.1:n.353G>A
ENST00000482722.5:n.1691G>A
NM_001852.3:c.1388G>A	NP_001843.1:p.Gly463Glu
XM_006710365.2:c.1388G>A	XP_006710428.1:p.Gly463Glu
XM_011540714.1:c.1400G>A	XP_011539016.1:p.Gly467Glu
XM_011540715.1:c.1118G>A	XP_011539017.1:p.Gly373Glu
XM_011540716.1:c.1118G>A	XP_011539018.1:p.Gly373Glu
XM_011540717.1:c.845G>A	XP_011539019.1:p.Gly282Glu
XM_006710365.3:c.1388G>A	XP_006710428.1:p.Gly463Glu
XM_011540715.2:c.1118G>A	XP_011539017.1:p.Gly373Glu
XM_011540716.2:c.1118G>A	XP_011539018.1:p.Gly373Glu
XM_011540717.2:c.845G>A	XP_011539019.1:p.Gly282Glu
XM_017000332.1:c.1400G>A	XP_016855821.1:p.Gly467Glu
XM_017000333.1:c.1106G>A	XP_016855822.1:p.Gly369Glu
NM_001852.4:c.1388G>A MANE Select	NP_001843.1:p.Gly463Glu