Canonical Allele Identifier: CA2645101973

Gene: COL9A2

Linked Data

• gnomAD v4: 1-40303690-GGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303698_40303729del , CM000663.2:g.40303698_40303729del	GRCh38
NC_000001.10:g.40769370_40769401del , CM000663.1:g.40769370_40769401del	GRCh37
NC_000001.9:g.40541957_40541988del	NCBI36
NG_008031.1:g.18546_18577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1402-46_1402-15del MANE Select	ENSP00000361834.3:n.1402-46_1402-15del
ENST00000372748.7:c.1402-46_1402-15del	ENSP00000361834.3:n.1402-46_1402-15del
ENST00000427563.1:c.213-46_213-15del	ENSP00000407377.1:n.213-46_213-15del
ENST00000466267.1:n.367-46_367-15del
ENST00000482722.5:n.1705-46_1705-15del
NM_001852.3:c.1402-46_1402-15del	NP_001843.1:n.1402-46_1402-15del
XM_006710365.2:c.1402-46_1402-15del	XP_006710428.1:n.1402-46_1402-15del
XM_011540714.1:c.1414-46_1414-15del	XP_011539016.1:n.1414-46_1414-15del
XM_011540715.1:c.1132-46_1132-15del	XP_011539017.1:n.1132-46_1132-15del
XM_011540716.1:c.1132-46_1132-15del	XP_011539018.1:n.1132-46_1132-15del
XM_011540717.1:c.859-46_859-15del	XP_011539019.1:n.859-46_859-15del
XM_006710365.3:c.1402-46_1402-15del	XP_006710428.1:n.1402-46_1402-15del
XM_011540715.2:c.1132-46_1132-15del	XP_011539017.1:n.1132-46_1132-15del
XM_011540716.2:c.1132-46_1132-15del	XP_011539018.1:n.1132-46_1132-15del
XM_011540717.2:c.859-46_859-15del	XP_011539019.1:n.859-46_859-15del
XM_017000332.1:c.1414-46_1414-15del	XP_016855821.1:n.1414-46_1414-15del
XM_017000333.1:c.1120-46_1120-15del	XP_016855822.1:n.1120-46_1120-15del
NM_001852.4:c.1402-46_1402-15del MANE Select	NP_001843.1:n.1402-46_1402-15del