Canonical Allele Identifier: CA791577

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 297302
• ClinVar RCV Id: RCV000498672 ; RCV000360126 ; RCV000509212 ; RCV002520489
• dbSNP Id: rs375476174
• ExAC: 1:40770504 G / C
• gnomAD v2: 1-40770504-G-C
• gnomAD v3: 1-40304832-G-C
• gnomAD v4: 1-40304832-G-C
• MyVariant Identifiers: chr1:g.40770504G>C (hg19) ; chr1:g.40304832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40304832G>C , CM000663.2:g.40304832G>C	GRCh38
NC_000001.10:g.40770504G>C , CM000663.1:g.40770504G>C	GRCh37
NC_000001.9:g.40543091G>C	NCBI36
NG_008031.1:g.17436C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1123C>G MANE Select	ENSP00000361834.3:p.Arg375Gly
ENST00000372748.7:c.1123C>G	ENSP00000361834.3:p.Arg375Gly
ENST00000466267.1:n.88C>G
ENST00000482722.5:n.1426C>G
NM_001852.3:c.1123C>G	NP_001843.1:p.Arg375Gly
XM_006710365.2:c.1123C>G	XP_006710428.1:p.Arg375Gly
XM_011540714.1:c.1135C>G	XP_011539016.1:p.Arg379Gly
XM_011540715.1:c.853C>G	XP_011539017.1:p.Arg285Gly
XM_011540716.1:c.853C>G	XP_011539018.1:p.Arg285Gly
XM_011540717.1:c.580C>G	XP_011539019.1:p.Arg194Gly
XM_006710365.3:c.1123C>G	XP_006710428.1:p.Arg375Gly
XM_011540715.2:c.853C>G	XP_011539017.1:p.Arg285Gly
XM_011540716.2:c.853C>G	XP_011539018.1:p.Arg285Gly
XM_011540717.2:c.580C>G	XP_011539019.1:p.Arg194Gly
XM_017000332.1:c.1135C>G	XP_016855821.1:p.Arg379Gly
XM_017000333.1:c.841C>G	XP_016855822.1:p.Arg281Gly
NM_001852.4:c.1123C>G MANE Select	NP_001843.1:p.Arg375Gly