Canonical Allele Identifier: CA1140339773
Community Standard Title: NM_001852.4(COL9A2):c.976C= (p.Gln326=)
Gene: COL9A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40307478G= , CM000663.2:g.40307478G= GRCh38
NC_000001.10:g.40773150G= , CM000663.1:g.40773150G= GRCh37
NC_000001.9:g.40545737G= NCBI36
NG_008031.1:g.14790C=

Transcript Alleles

HGVS Amino-acid Change
NM_001852.4:c.976C= MANE Select NP_001843.1:p.Gln326=
ENST00000372748.8:c.976C= MANE Select ENSP00000361834.3:p.Gln326=
NM_001852.3:c.976C= NP_001843.1:p.Gln326=
ENST00000372748.7:c.976C= ENSP00000361834.3:p.Gln326=
ENST00000482722.5:n.1279C=
XM_006710365.2:c.976C= XP_006710428.1:p.Gln326=
XM_006710365.3:c.976C= XP_006710428.1:p.Gln326=
XM_011540714.1:c.988C= XP_011539016.1:p.Gln330=
XM_011540715.1:c.706C= XP_011539017.1:p.Gln236=
XM_011540715.2:c.706C= XP_011539017.1:p.Gln236=
XM_011540716.1:c.706C= XP_011539018.1:p.Gln236=
XM_011540716.2:c.706C= XP_011539018.1:p.Gln236=
XM_011540717.1:c.433C= XP_011539019.1:p.Gln145=
XM_011540717.2:c.433C= XP_011539019.1:p.Gln145=
XM_011540718.1:c.988C= XP_011539020.1:p.Gln330=
XM_017000332.1:c.988C= XP_016855821.1:p.Gln330=
XM_017000333.1:c.694C= XP_016855822.1:p.Gln232=