Canonical Allele Identifier: CA2743297325
Gene: COL9A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40303695_40303749del , CM000663.2:g.40303695_40303749del GRCh38
NC_000001.10:g.40769367_40769421del , CM000663.1:g.40769367_40769421del GRCh37
NC_000001.9:g.40541954_40542008del NCBI36
NG_008031.1:g.18526_18580del

Transcript Alleles

HGVS Amino-acid change
ENST00000372748.8:c.1402-66_1402-12del MANE Select ENSP00000361834.3:n.1402-66_1402-12del
ENST00000372748.7:c.1402-66_1402-12del ENSP00000361834.3:n.1402-66_1402-12del
ENST00000427563.1:c.213-66_213-12del ENSP00000407377.1:n.213-66_213-12del
ENST00000466267.1:n.367-66_367-12del
ENST00000482722.5:n.1705-66_1705-12del
NM_001852.3:c.1402-66_1402-12del NP_001843.1:n.1402-66_1402-12del
XM_006710365.2:c.1402-66_1402-12del XP_006710428.1:n.1402-66_1402-12del
XM_011540714.1:c.1414-66_1414-12del XP_011539016.1:n.1414-66_1414-12del
XM_011540715.1:c.1132-66_1132-12del XP_011539017.1:n.1132-66_1132-12del
XM_011540716.1:c.1132-66_1132-12del XP_011539018.1:n.1132-66_1132-12del
XM_011540717.1:c.859-66_859-12del XP_011539019.1:n.859-66_859-12del
XM_006710365.3:c.1402-66_1402-12del XP_006710428.1:n.1402-66_1402-12del
XM_011540715.2:c.1132-66_1132-12del XP_011539017.1:n.1132-66_1132-12del
XM_011540716.2:c.1132-66_1132-12del XP_011539018.1:n.1132-66_1132-12del
XM_011540717.2:c.859-66_859-12del XP_011539019.1:n.859-66_859-12del
XM_017000332.1:c.1414-66_1414-12del XP_016855821.1:n.1414-66_1414-12del
XM_017000333.1:c.1120-66_1120-12del XP_016855822.1:n.1120-66_1120-12del
NM_001852.4:c.1402-66_1402-12del MANE Select NP_001843.1:n.1402-66_1402-12del