Canonical Allele Identifier: CA339851345

Gene: COL9A2

Linked Data

• MyVariant Identifiers: chr1:g.40771825G>T (hg19) ; chr1:g.40306153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40306153G>T , CM000663.2:g.40306153G>T	GRCh38
NC_000001.10:g.40771825G>T , CM000663.1:g.40771825G>T	GRCh37
NC_000001.9:g.40544412G>T	NCBI36
NG_008031.1:g.16115C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1043C>A MANE Select	ENSP00000361834.3:p.Pro348His
ENST00000372748.7:c.1043C>A	ENSP00000361834.3:p.Pro348His
ENST00000482722.5:n.1346C>A
NM_001852.3:c.1043C>A	NP_001843.1:p.Pro348His
XM_006710365.2:c.1043C>A	XP_006710428.1:p.Pro348His
XM_011540714.1:c.1055C>A	XP_011539016.1:p.Pro352His
XM_011540715.1:c.773C>A	XP_011539017.1:p.Pro258His
XM_011540716.1:c.773C>A	XP_011539018.1:p.Pro258His
XM_011540717.1:c.500C>A	XP_011539019.1:p.Pro167His
XM_006710365.3:c.1043C>A	XP_006710428.1:p.Pro348His
XM_011540715.2:c.773C>A	XP_011539017.1:p.Pro258His
XM_011540716.2:c.773C>A	XP_011539018.1:p.Pro258His
XM_011540717.2:c.500C>A	XP_011539019.1:p.Pro167His
XM_017000332.1:c.1055C>A	XP_016855821.1:p.Pro352His
XM_017000333.1:c.761C>A	XP_016855822.1:p.Pro254His
NM_001852.4:c.1043C>A MANE Select	NP_001843.1:p.Pro348His