Canonical Allele Identifier: CA339879174

Gene: COL9A2

Linked Data

• gnomAD v4: 1-40303812-C-A
• MyVariant Identifiers: chr1:g.40769484C>A (hg19) ; chr1:g.40303812C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1396G>T MANE Select	ENSP00000361834.3:p.Gly466Ter
ENST00000372748.7:c.1396G>T	ENSP00000361834.3:p.Gly466Ter
ENST00000427563.1:c.207G>T	ENSP00000407377.1:p.Arg69Ser
ENST00000466267.1:n.361G>T
ENST00000482722.5:n.1699G>T
NM_001852.3:c.1396G>T	NP_001843.1:p.Gly466Ter
XM_006710365.2:c.1396G>T	XP_006710428.1:p.Gly466Ter
XM_011540714.1:c.1408G>T	XP_011539016.1:p.Gly470Ter
XM_011540715.1:c.1126G>T	XP_011539017.1:p.Gly376Ter
XM_011540716.1:c.1126G>T	XP_011539018.1:p.Gly376Ter
XM_011540717.1:c.853G>T	XP_011539019.1:p.Gly285Ter
XM_006710365.3:c.1396G>T	XP_006710428.1:p.Gly466Ter
XM_011540715.2:c.1126G>T	XP_011539017.1:p.Gly376Ter
XM_011540716.2:c.1126G>T	XP_011539018.1:p.Gly376Ter
XM_011540717.2:c.853G>T	XP_011539019.1:p.Gly285Ter
XM_017000332.1:c.1408G>T	XP_016855821.1:p.Gly470Ter
XM_017000333.1:c.1114G>T	XP_016855822.1:p.Gly372Ter
NM_001852.4:c.1396G>T MANE Select	NP_001843.1:p.Gly466Ter