Canonical Allele Identifier: CA791645
Gene: COL9A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.40307477T>C
GRCh37 chr1:g.40773149T>C
Revel Score:
ENST00000372748 (MANE Select) 0.260
gnomAD v2:
1:40773149 T / C
gnomAD v3:
1:40307477 T / C
gnomAD v4:
chr1-40307477-T-C
Joint Max Group AF 0.64194938 (EAS)
Genomes Max Group AF 0.60187184 (EAS)
Exomes Max Group AF 0.64522246 (EAS)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000372748.8:c.977A>G MANE Select ENSP00000361834.3:p.Gln326Arg
ENST00000372748.7:c.977A>G ENSP00000361834.3:p.Gln326Arg
ENST00000482722.5:n.1280A>G
NM_001852.3:c.977A>G NP_001843.1:p.Gln326Arg
XM_006710365.2:c.977A>G XP_006710428.1:p.Gln326Arg
XM_011540714.1:c.989A>G XP_011539016.1:p.Gln330Arg
XM_011540715.1:c.707A>G XP_011539017.1:p.Gln236Arg
XM_011540716.1:c.707A>G XP_011539018.1:p.Gln236Arg
XM_011540717.1:c.434A>G XP_011539019.1:p.Gln145Arg
XM_011540718.1:c.989A>G XP_011539020.1:p.Gln330Arg
XM_006710365.3:c.977A>G XP_006710428.1:p.Gln326Arg
XM_011540715.2:c.707A>G XP_011539017.1:p.Gln236Arg
XM_011540716.2:c.707A>G XP_011539018.1:p.Gln236Arg
XM_011540717.2:c.434A>G XP_011539019.1:p.Gln145Arg
XM_017000332.1:c.989A>G XP_016855821.1:p.Gln330Arg
XM_017000333.1:c.695A>G XP_016855822.1:p.Gln232Arg
NM_001852.4:c.977A>G MANE Select NP_001843.1:p.Gln326Arg
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