Canonical Allele Identifier: CA791622

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 1660794
• ClinVar RCV Id: RCV002176201
• dbSNP Id: rs765020486
• ExAC: 1:40771819 T / C
• gnomAD v2: 1-40771819-T-C
• gnomAD v3: 1-40306147-T-C
• gnomAD v4: 1-40306147-T-C
• MyVariant Identifiers: chr1:g.40771819T>C (hg19) ; chr1:g.40306147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40306147T>C , CM000663.2:g.40306147T>C	GRCh38
NC_000001.10:g.40771819T>C , CM000663.1:g.40771819T>C	GRCh37
NC_000001.9:g.40544406T>C	NCBI36
NG_008031.1:g.16121A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1049A>G MANE Select	ENSP00000361834.3:p.Asp350Gly
ENST00000372748.7:c.1049A>G	ENSP00000361834.3:p.Asp350Gly
ENST00000482722.5:n.1352A>G
NM_001852.3:c.1049A>G	NP_001843.1:p.Asp350Gly
XM_006710365.2:c.1049A>G	XP_006710428.1:p.Asp350Gly
XM_011540714.1:c.1061A>G	XP_011539016.1:p.Asp354Gly
XM_011540715.1:c.779A>G	XP_011539017.1:p.Asp260Gly
XM_011540716.1:c.779A>G	XP_011539018.1:p.Asp260Gly
XM_011540717.1:c.506A>G	XP_011539019.1:p.Asp169Gly
XM_006710365.3:c.1049A>G	XP_006710428.1:p.Asp350Gly
XM_011540715.2:c.779A>G	XP_011539017.1:p.Asp260Gly
XM_011540716.2:c.779A>G	XP_011539018.1:p.Asp260Gly
XM_011540717.2:c.506A>G	XP_011539019.1:p.Asp169Gly
XM_017000332.1:c.1061A>G	XP_016855821.1:p.Asp354Gly
XM_017000333.1:c.767A>G	XP_016855822.1:p.Asp256Gly
NM_001852.4:c.1049A>G MANE Select	NP_001843.1:p.Asp350Gly