Canonical Allele Identifier: CA339879221

Gene: COL9A2

Linked Data

• gnomAD v4: 1-40303818-G-C
• MyVariant Identifiers: chr1:g.40769490G>C (hg19) ; chr1:g.40303818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303818G>C , CM000663.2:g.40303818G>C	GRCh38
NC_000001.10:g.40769490G>C , CM000663.1:g.40769490G>C	GRCh37
NC_000001.9:g.40542077G>C	NCBI36
NG_008031.1:g.18450C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1390C>G MANE Select	ENSP00000361834.3:p.Pro464Ala
ENST00000372748.7:c.1390C>G	ENSP00000361834.3:p.Pro464Ala
ENST00000427563.1:c.201C>G	ENSP00000407377.1:p.Gly67=
ENST00000466267.1:n.355C>G
ENST00000482722.5:n.1693C>G
NM_001852.3:c.1390C>G	NP_001843.1:p.Pro464Ala
XM_006710365.2:c.1390C>G	XP_006710428.1:p.Pro464Ala
XM_011540714.1:c.1402C>G	XP_011539016.1:p.Pro468Ala
XM_011540715.1:c.1120C>G	XP_011539017.1:p.Pro374Ala
XM_011540716.1:c.1120C>G	XP_011539018.1:p.Pro374Ala
XM_011540717.1:c.847C>G	XP_011539019.1:p.Pro283Ala
XM_006710365.3:c.1390C>G	XP_006710428.1:p.Pro464Ala
XM_011540715.2:c.1120C>G	XP_011539017.1:p.Pro374Ala
XM_011540716.2:c.1120C>G	XP_011539018.1:p.Pro374Ala
XM_011540717.2:c.847C>G	XP_011539019.1:p.Pro283Ala
XM_017000332.1:c.1402C>G	XP_016855821.1:p.Pro468Ala
XM_017000333.1:c.1108C>G	XP_016855822.1:p.Pro370Ala
NM_001852.4:c.1390C>G MANE Select	NP_001843.1:p.Pro464Ala