Canonical Allele Identifier: CA522428790

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40304358_40304376dup , CM000663.2:g.40304358_40304376dup	GRCh38
NC_000001.10:g.40770030_40770048dup , CM000663.1:g.40770030_40770048dup	GRCh37
NC_000001.9:g.40542617_40542635dup	NCBI36
NG_008031.1:g.17901_17919dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1240_1258dup MANE Select	NP_001843.1:p.Gln420ProfsTer30
ENST00000372748.8:c.1240_1258dup MANE Select	ENSP00000361834.3:p.Gln420ProfsTer30
NM_001852.3:c.1240_1258dup	NP_001843.1:p.Gln420ProfsTer30
ENST00000372748.7:c.1240_1258dup	ENSP00000361834.3:p.Gln420ProfsTer30
ENST00000427563.1:c.51_69dup	ENSP00000407377.1:p.Lys24ProfsTer?
ENST00000466267.1:n.205_223dup
ENST00000482722.5:n.1543_1561dup
XM_006710365.2:c.1240_1258dup	XP_006710428.1:p.Gln420ProfsTer30
XM_006710365.3:c.1240_1258dup	XP_006710428.1:p.Gln420ProfsTer30
XM_011540714.1:c.1252_1270dup	XP_011539016.1:p.Gln424ProfsTer30
XM_011540715.1:c.970_988dup	XP_011539017.1:p.Gln330ProfsTer30
XM_011540715.2:c.970_988dup	XP_011539017.1:p.Gln330ProfsTer30
XM_011540716.1:c.970_988dup	XP_011539018.1:p.Gln330ProfsTer30
XM_011540716.2:c.970_988dup	XP_011539018.1:p.Gln330ProfsTer30
XM_011540717.1:c.697_715dup	XP_011539019.1:p.Gln239ProfsTer30
XM_011540717.2:c.697_715dup	XP_011539019.1:p.Gln239ProfsTer30
XM_017000332.1:c.1252_1270dup	XP_016855821.1:p.Gln424ProfsTer30
XM_017000333.1:c.958_976dup	XP_016855822.1:p.Gln326ProfsTer30