Canonical Allele Identifier: CA339879196

Gene: COL9A2

Linked Data

• dbSNP Id: rs1643958824
• gnomAD v4: 1-40303814-T-C
• MyVariant Identifiers: chr1:g.40769486T>C (hg19) ; chr1:g.40303814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303814T>C , CM000663.2:g.40303814T>C	GRCh38
NC_000001.10:g.40769486T>C , CM000663.1:g.40769486T>C	GRCh37
NC_000001.9:g.40542073T>C	NCBI36
NG_008031.1:g.18454A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1394A>G MANE Select	ENSP00000361834.3:p.Lys465Arg
ENST00000372748.7:c.1394A>G	ENSP00000361834.3:p.Lys465Arg
ENST00000427563.1:c.205A>G	ENSP00000407377.1:p.Arg69Gly
ENST00000466267.1:n.359A>G
ENST00000482722.5:n.1697A>G
NM_001852.3:c.1394A>G	NP_001843.1:p.Lys465Arg
XM_006710365.2:c.1394A>G	XP_006710428.1:p.Lys465Arg
XM_011540714.1:c.1406A>G	XP_011539016.1:p.Lys469Arg
XM_011540715.1:c.1124A>G	XP_011539017.1:p.Lys375Arg
XM_011540716.1:c.1124A>G	XP_011539018.1:p.Lys375Arg
XM_011540717.1:c.851A>G	XP_011539019.1:p.Lys284Arg
XM_006710365.3:c.1394A>G	XP_006710428.1:p.Lys465Arg
XM_011540715.2:c.1124A>G	XP_011539017.1:p.Lys375Arg
XM_011540716.2:c.1124A>G	XP_011539018.1:p.Lys375Arg
XM_011540717.2:c.851A>G	XP_011539019.1:p.Lys284Arg
XM_017000332.1:c.1406A>G	XP_016855821.1:p.Lys469Arg
XM_017000333.1:c.1112A>G	XP_016855822.1:p.Lys371Arg
NM_001852.4:c.1394A>G MANE Select	NP_001843.1:p.Lys465Arg