Canonical Allele Identifier: CA10609918

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301060A>G , CM000663.2:g.40301060A>G	GRCh38
NC_000001.10:g.40766732A>G , CM000663.1:g.40766732A>G	GRCh37
NC_000001.9:g.40539319A>G	NCBI36
NG_008031.1:g.21208T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.*122T>C MANE Select	ENSP00000361834.3:n.*122T>C
ENST00000372748.7:c.*122T>C	ENSP00000361834.3:n.*122T>C
ENST00000482722.5:n.2495T>C
NM_001852.3:c.*122T>C	NP_001843.1:n.*122T>C
XM_006710365.2:c.*122T>C	XP_006710428.1:n.*122T>C
XM_011540714.1:c.*122T>C	XP_011539016.1:n.*122T>C
XM_011540715.1:c.*122T>C	XP_011539017.1:n.*122T>C
XM_011540716.1:c.*122T>C	XP_011539018.1:n.*122T>C
XM_011540717.1:c.*122T>C	XP_011539019.1:n.*122T>C
XM_006710365.3:c.*122T>C	XP_006710428.1:n.*122T>C
XM_011540715.2:c.*122T>C	XP_011539017.1:n.*122T>C
XM_011540716.2:c.*122T>C	XP_011539018.1:n.*122T>C
XM_011540717.2:c.*122T>C	XP_011539019.1:n.*122T>C
XM_017000332.1:c.*122T>C	XP_016855821.1:n.*122T>C
XM_017000333.1:c.*122T>C	XP_016855822.1:n.*122T>C
NM_001852.4:c.*122T>C MANE Select	NP_001843.1:n.*122T>C