Canonical Allele Identifier: CA791268

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 508779
• ClinVar RCV Id: RCV000907560 ; RCV001729652 ; RCV003935660
• dbSNP Id: rs142867960
• ExAC: 1:40766962 C / A
• gnomAD v2: 1-40766962-C-A
• gnomAD v3: 1-40301290-C-A
• gnomAD v4: 1-40301290-C-A
• MyVariant Identifiers: chr1:g.40766962C>A (hg19) ; chr1:g.40301290C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301290C>A , CM000663.2:g.40301290C>A	GRCh38
NC_000001.10:g.40766962C>A , CM000663.1:g.40766962C>A	GRCh37
NC_000001.9:g.40539549C>A	NCBI36
NG_008031.1:g.20978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1962G>T MANE Select	ENSP00000361834.3:p.Leu654=
ENST00000372748.7:c.1962G>T	ENSP00000361834.3:p.Leu654=
ENST00000482722.5:n.2265G>T
NM_001852.3:c.1962G>T	NP_001843.1:p.Leu654=
XM_006710365.2:c.1962G>T	XP_006710428.1:p.Leu654=
XM_011540714.1:c.1974G>T	XP_011539016.1:p.Leu658=
XM_011540715.1:c.1692G>T	XP_011539017.1:p.Leu564=
XM_011540716.1:c.1692G>T	XP_011539018.1:p.Leu564=
XM_011540717.1:c.1419G>T	XP_011539019.1:p.Leu473=
XM_006710365.3:c.1962G>T	XP_006710428.1:p.Leu654=
XM_011540715.2:c.1692G>T	XP_011539017.1:p.Leu564=
XM_011540716.2:c.1692G>T	XP_011539018.1:p.Leu564=
XM_011540717.2:c.1419G>T	XP_011539019.1:p.Leu473=
XM_017000332.1:c.1974G>T	XP_016855821.1:p.Leu658=
XM_017000333.1:c.1680G>T	XP_016855822.1:p.Leu560=
NM_001852.4:c.1962G>T MANE Select	NP_001843.1:p.Leu654=