Canonical Allele Identifier: CA522802907

Gene: COL9A2

Linked Data

• dbSNP Id: rs1557792898
• gnomAD v2: 1-40769394-CG-C
• gnomAD v4: 1-40303722-CG-C
• MyVariant Identifiers: chr1:g.40769395del (hg19) ; chr1:g.40303723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303725del , CM000663.2:g.40303725del	GRCh38
NC_000001.10:g.40769397del , CM000663.1:g.40769397del	GRCh37
NC_000001.9:g.40541984del	NCBI36
NG_008031.1:g.18545del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1402-47del MANE Select	ENSP00000361834.3:n.1402-47del
ENST00000372748.7:c.1402-47del	ENSP00000361834.3:n.1402-47del
ENST00000427563.1:c.213-47del	ENSP00000407377.1:n.213-47del
ENST00000466267.1:n.367-47del
ENST00000482722.5:n.1705-47del
NM_001852.3:c.1402-47del	NP_001843.1:n.1402-47del
XM_006710365.2:c.1402-47del	XP_006710428.1:n.1402-47del
XM_011540714.1:c.1414-47del	XP_011539016.1:n.1414-47del
XM_011540715.1:c.1132-47del	XP_011539017.1:n.1132-47del
XM_011540716.1:c.1132-47del	XP_011539018.1:n.1132-47del
XM_011540717.1:c.859-47del	XP_011539019.1:n.859-47del
XM_006710365.3:c.1402-47del	XP_006710428.1:n.1402-47del
XM_011540715.2:c.1132-47del	XP_011539017.1:n.1132-47del
XM_011540716.2:c.1132-47del	XP_011539018.1:n.1132-47del
XM_011540717.2:c.859-47del	XP_011539019.1:n.859-47del
XM_017000332.1:c.1414-47del	XP_016855821.1:n.1414-47del
XM_017000333.1:c.1120-47del	XP_016855822.1:n.1120-47del
NM_001852.4:c.1402-47del MANE Select	NP_001843.1:n.1402-47del