Canonical Allele Identifier: CA21041666

Gene: COL9A2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40307477T>G , CM000663.2:g.40307477T>G	GRCh38
NC_000001.10:g.40773149T>G , CM000663.1:g.40773149T>G	GRCh37
NC_000001.9:g.40545736T>G	NCBI36
NG_008031.1:g.14791A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.977A>C MANE Select	ENSP00000361834.3:p.Gln326Pro
ENST00000372748.7:c.977A>C	ENSP00000361834.3:p.Gln326Pro
ENST00000482722.5:n.1280A>C
NM_001852.3:c.977A>C	NP_001843.1:p.Gln326Pro
XM_006710365.2:c.977A>C	XP_006710428.1:p.Gln326Pro
XM_011540714.1:c.989A>C	XP_011539016.1:p.Gln330Pro
XM_011540715.1:c.707A>C	XP_011539017.1:p.Gln236Pro
XM_011540716.1:c.707A>C	XP_011539018.1:p.Gln236Pro
XM_011540717.1:c.434A>C	XP_011539019.1:p.Gln145Pro
XM_011540718.1:c.989A>C	XP_011539020.1:p.Gln330Pro
XM_006710365.3:c.977A>C	XP_006710428.1:p.Gln326Pro
XM_011540715.2:c.707A>C	XP_011539017.1:p.Gln236Pro
XM_011540716.2:c.707A>C	XP_011539018.1:p.Gln236Pro
XM_011540717.2:c.434A>C	XP_011539019.1:p.Gln145Pro
XM_017000332.1:c.989A>C	XP_016855821.1:p.Gln330Pro
XM_017000333.1:c.695A>C	XP_016855822.1:p.Gln232Pro
NM_001852.4:c.977A>C MANE Select	NP_001843.1:p.Gln326Pro