Canonical Allele Identifier: CA417330409

Gene: COL9A2

Linked Data

• gnomAD v4: 1-40301293-G-A
• MyVariant Identifiers: chr1:g.40766965G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301293G>A , CM000663.2:g.40301293G>A	GRCh38
NC_000001.10:g.40766965G>A , CM000663.1:g.40766965G>A	GRCh37
NC_000001.9:g.40539552G>A	NCBI36
NG_008031.1:g.20975C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1959C>T MANE Select	ENSP00000361834.3:p.Gly653=
ENST00000372748.7:c.1959C>T	ENSP00000361834.3:p.Gly653=
ENST00000482722.5:n.2262C>T
NM_001852.3:c.1959C>T	NP_001843.1:p.Gly653=
XM_006710365.2:c.1959C>T	XP_006710428.1:p.Gly653=
XM_011540714.1:c.1971C>T	XP_011539016.1:p.Gly657=
XM_011540715.1:c.1689C>T	XP_011539017.1:p.Gly563=
XM_011540716.1:c.1689C>T	XP_011539018.1:p.Gly563=
XM_011540717.1:c.1416C>T	XP_011539019.1:p.Gly472=
XM_006710365.3:c.1959C>T	XP_006710428.1:p.Gly653=
XM_011540715.2:c.1689C>T	XP_011539017.1:p.Gly563=
XM_011540716.2:c.1689C>T	XP_011539018.1:p.Gly563=
XM_011540717.2:c.1416C>T	XP_011539019.1:p.Gly472=
XM_017000332.1:c.1971C>T	XP_016855821.1:p.Gly657=
XM_017000333.1:c.1677C>T	XP_016855822.1:p.Gly559=
NM_001852.4:c.1959C>T MANE Select	NP_001843.1:p.Gly653=