Canonical Allele Identifier: CA21041275

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303574del , CM000663.2:g.40303574del	GRCh38
NC_000001.10:g.40769246del , CM000663.1:g.40769246del	GRCh37
NC_000001.9:g.40541833del	NCBI36
NG_008031.1:g.18696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1506del MANE Select	ENSP00000361834.3:p.Asn503ThrfsTer28
ENST00000372748.7:c.1506del	ENSP00000361834.3:p.Asn503ThrfsTer28
ENST00000427563.1:c.317del	ENSP00000407377.1:p.Gly106GlufsTer?
ENST00000466267.1:n.471del
ENST00000482722.5:n.1809del
NM_001852.3:c.1506del	NP_001843.1:p.Asn503ThrfsTer28
XM_006710365.2:c.1506del	XP_006710428.1:p.Asn503ThrfsTer28
XM_011540714.1:c.1518del	XP_011539016.1:p.Asn507ThrfsTer28
XM_011540715.1:c.1236del	XP_011539017.1:p.Asn413ThrfsTer28
XM_011540716.1:c.1236del	XP_011539018.1:p.Asn413ThrfsTer28
XM_011540717.1:c.963del	XP_011539019.1:p.Asn322ThrfsTer28
XM_006710365.3:c.1506del	XP_006710428.1:p.Asn503ThrfsTer28
XM_011540715.2:c.1236del	XP_011539017.1:p.Asn413ThrfsTer28
XM_011540716.2:c.1236del	XP_011539018.1:p.Asn413ThrfsTer28
XM_011540717.2:c.963del	XP_011539019.1:p.Asn322ThrfsTer28
XM_017000332.1:c.1518del	XP_016855821.1:p.Asn507ThrfsTer28
XM_017000333.1:c.1224del	XP_016855822.1:p.Asn409ThrfsTer28
NM_001852.4:c.1506del MANE Select	NP_001843.1:p.Asn503ThrfsTer28