Canonical Allele Identifier: CA2645102118
Gene: COL9A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40303822del , CM000663.2:g.40303822del GRCh38
NC_000001.10:g.40769494del , CM000663.1:g.40769494del GRCh37
NC_000001.9:g.40542081del NCBI36
NG_008031.1:g.18449del

Transcript Alleles

HGVS Amino-acid change
ENST00000372748.8:c.1389del MANE Select ENSP00000361834.3:p.Lys465ArgfsTer?
ENST00000372748.7:c.1389del ENSP00000361834.3:p.Lys465ArgfsTer?
ENST00000427563.1:c.200del ENSP00000407377.1:p.Gly67AlafsTer?
ENST00000466267.1:n.354del
ENST00000482722.5:n.1692del
NM_001852.3:c.1389del NP_001843.1:p.Lys465ArgfsTer?
XM_006710365.2:c.1389del XP_006710428.1:p.Lys465ArgfsTer?
XM_011540714.1:c.1401del XP_011539016.1:p.Lys469ArgfsTer?
XM_011540715.1:c.1119del XP_011539017.1:p.Lys375ArgfsTer?
XM_011540716.1:c.1119del XP_011539018.1:p.Lys375ArgfsTer?
XM_011540717.1:c.846del XP_011539019.1:p.Lys284ArgfsTer?
XM_006710365.3:c.1389del XP_006710428.1:p.Lys465ArgfsTer?
XM_011540715.2:c.1119del XP_011539017.1:p.Lys375ArgfsTer?
XM_011540716.2:c.1119del XP_011539018.1:p.Lys375ArgfsTer?
XM_011540717.2:c.846del XP_011539019.1:p.Lys284ArgfsTer?
XM_017000332.1:c.1401del XP_016855821.1:p.Lys469ArgfsTer?
XM_017000333.1:c.1107del XP_016855822.1:p.Lys371ArgfsTer?
NM_001852.4:c.1389del MANE Select NP_001843.1:p.Lys465ArgfsTer?