Canonical Allele Identifier: CA339879182

Gene: COL9A2

Linked Data

• gnomAD v4: 1-40303813-C-A
• MyVariant Identifiers: chr1:g.40769485C>A (hg19) ; chr1:g.40303813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303813C>A , CM000663.2:g.40303813C>A	GRCh38
NC_000001.10:g.40769485C>A , CM000663.1:g.40769485C>A	GRCh37
NC_000001.9:g.40542072C>A	NCBI36
NG_008031.1:g.18455G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1395G>T MANE Select	ENSP00000361834.3:p.Lys465Asn
ENST00000372748.7:c.1395G>T	ENSP00000361834.3:p.Lys465Asn
ENST00000427563.1:c.206G>T	ENSP00000407377.1:p.Arg69Met
ENST00000466267.1:n.360G>T
ENST00000482722.5:n.1698G>T
NM_001852.3:c.1395G>T	NP_001843.1:p.Lys465Asn
XM_006710365.2:c.1395G>T	XP_006710428.1:p.Lys465Asn
XM_011540714.1:c.1407G>T	XP_011539016.1:p.Lys469Asn
XM_011540715.1:c.1125G>T	XP_011539017.1:p.Lys375Asn
XM_011540716.1:c.1125G>T	XP_011539018.1:p.Lys375Asn
XM_011540717.1:c.852G>T	XP_011539019.1:p.Lys284Asn
XM_006710365.3:c.1395G>T	XP_006710428.1:p.Lys465Asn
XM_011540715.2:c.1125G>T	XP_011539017.1:p.Lys375Asn
XM_011540716.2:c.1125G>T	XP_011539018.1:p.Lys375Asn
XM_011540717.2:c.852G>T	XP_011539019.1:p.Lys284Asn
XM_017000332.1:c.1407G>T	XP_016855821.1:p.Lys469Asn
XM_017000333.1:c.1113G>T	XP_016855822.1:p.Lys371Asn
NM_001852.4:c.1395G>T MANE Select	NP_001843.1:p.Lys465Asn