Canonical Allele Identifier: CA339879179

Gene: COL9A2

Linked Data

• dbSNP Id: rs1367573662
• gnomAD v2: 1-40769484-C-T
• gnomAD v3: 1-40303812-C-T
• gnomAD v4: 1-40303812-C-T
• MyVariant Identifiers: chr1:g.40769484C>T (hg19) ; chr1:g.40303812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303812C>T , CM000663.2:g.40303812C>T	GRCh38
NC_000001.10:g.40769484C>T , CM000663.1:g.40769484C>T	GRCh37
NC_000001.9:g.40542071C>T	NCBI36
NG_008031.1:g.18456G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1396G>A MANE Select	ENSP00000361834.3:p.Gly466Arg
ENST00000372748.7:c.1396G>A	ENSP00000361834.3:p.Gly466Arg
ENST00000427563.1:c.207G>A	ENSP00000407377.1:p.Arg69=
ENST00000466267.1:n.361G>A
ENST00000482722.5:n.1699G>A
NM_001852.3:c.1396G>A	NP_001843.1:p.Gly466Arg
XM_006710365.2:c.1396G>A	XP_006710428.1:p.Gly466Arg
XM_011540714.1:c.1408G>A	XP_011539016.1:p.Gly470Arg
XM_011540715.1:c.1126G>A	XP_011539017.1:p.Gly376Arg
XM_011540716.1:c.1126G>A	XP_011539018.1:p.Gly376Arg
XM_011540717.1:c.853G>A	XP_011539019.1:p.Gly285Arg
XM_006710365.3:c.1396G>A	XP_006710428.1:p.Gly466Arg
XM_011540715.2:c.1126G>A	XP_011539017.1:p.Gly376Arg
XM_011540716.2:c.1126G>A	XP_011539018.1:p.Gly376Arg
XM_011540717.2:c.853G>A	XP_011539019.1:p.Gly285Arg
XM_017000332.1:c.1408G>A	XP_016855821.1:p.Gly470Arg
XM_017000333.1:c.1114G>A	XP_016855822.1:p.Gly372Arg
NM_001852.4:c.1396G>A MANE Select	NP_001843.1:p.Gly466Arg