Canonical Allele Identifier: CA339879141

Gene: COL9A2

Linked Data

• dbSNP Id: rs1349269361
• gnomAD v4: 1-40303809-G-T
• MyVariant Identifiers: chr1:g.40769481G>T (hg19) ; chr1:g.40303809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40303809G>T , CM000663.2:g.40303809G>T	GRCh38
NC_000001.10:g.40769481G>T , CM000663.1:g.40769481G>T	GRCh37
NC_000001.9:g.40542068G>T	NCBI36
NG_008031.1:g.18459C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1399C>A MANE Select	ENSP00000361834.3:p.Gln467Lys
ENST00000372748.7:c.1399C>A	ENSP00000361834.3:p.Gln467Lys
ENST00000427563.1:c.210C>A	ENSP00000407377.1:p.Asp70Glu
ENST00000466267.1:n.364C>A
ENST00000482722.5:n.1702C>A
NM_001852.3:c.1399C>A	NP_001843.1:p.Gln467Lys
XM_006710365.2:c.1399C>A	XP_006710428.1:p.Gln467Lys
XM_011540714.1:c.1411C>A	XP_011539016.1:p.Gln471Lys
XM_011540715.1:c.1129C>A	XP_011539017.1:p.Gln377Lys
XM_011540716.1:c.1129C>A	XP_011539018.1:p.Gln377Lys
XM_011540717.1:c.856C>A	XP_011539019.1:p.Gln286Lys
XM_006710365.3:c.1399C>A	XP_006710428.1:p.Gln467Lys
XM_011540715.2:c.1129C>A	XP_011539017.1:p.Gln377Lys
XM_011540716.2:c.1129C>A	XP_011539018.1:p.Gln377Lys
XM_011540717.2:c.856C>A	XP_011539019.1:p.Gln286Lys
XM_017000332.1:c.1411C>A	XP_016855821.1:p.Gln471Lys
XM_017000333.1:c.1117C>A	XP_016855822.1:p.Gln373Lys
NM_001852.4:c.1399C>A MANE Select	NP_001843.1:p.Gln467Lys