Canonical Allele Identifier: CA791246

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 417900
• ClinVar RCV Id: RCV000477829 ; RCV001100678 ; RCV001489852
• dbSNP Id: rs201847956
• ExAC: 1:40766865 T / C
• gnomAD v2: 1-40766865-T-C
• gnomAD v3: 1-40301193-T-C
• gnomAD v4: 1-40301193-T-C
• MyVariant Identifiers: chr1:g.40766865T>C (hg19) ; chr1:g.40301193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301193T>C , CM000663.2:g.40301193T>C	GRCh38
NC_000001.10:g.40766865T>C , CM000663.1:g.40766865T>C	GRCh37
NC_000001.9:g.40539452T>C	NCBI36
NG_008031.1:g.21075A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.2059A>G MANE Select	ENSP00000361834.3:p.Lys687Glu
ENST00000372748.7:c.2059A>G	ENSP00000361834.3:p.Lys687Glu
ENST00000482722.5:n.2362A>G
NM_001852.3:c.2059A>G	NP_001843.1:p.Lys687Glu
XM_006710365.2:c.2059A>G	XP_006710428.1:p.Lys687Glu
XM_011540714.1:c.2071A>G	XP_011539016.1:p.Lys691Glu
XM_011540715.1:c.1789A>G	XP_011539017.1:p.Lys597Glu
XM_011540716.1:c.1789A>G	XP_011539018.1:p.Lys597Glu
XM_011540717.1:c.1516A>G	XP_011539019.1:p.Lys506Glu
XM_006710365.3:c.2059A>G	XP_006710428.1:p.Lys687Glu
XM_011540715.2:c.1789A>G	XP_011539017.1:p.Lys597Glu
XM_011540716.2:c.1789A>G	XP_011539018.1:p.Lys597Glu
XM_011540717.2:c.1516A>G	XP_011539019.1:p.Lys506Glu
XM_017000332.1:c.2071A>G	XP_016855821.1:p.Lys691Glu
XM_017000333.1:c.1777A>G	XP_016855822.1:p.Lys593Glu
NM_001852.4:c.2059A>G MANE Select	NP_001843.1:p.Lys687Glu