Canonical Allele Identifier: CA417331245

Gene: COL9A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40314352C>T , CM000663.2:g.40314352C>T	GRCh38
NC_000001.10:g.40780024C>T , CM000663.1:g.40780024C>T	GRCh37
NC_000001.9:g.40552611C>T	NCBI36
NG_008031.1:g.7916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.186G>A MANE Select	ENSP00000361834.3:p.Pro62=
ENST00000417105.6:c.-97G>A	ENSP00000388493.2:n.-97G>A
ENST00000461118.6:n.752G>A
ENST00000488463.6:n.237G>A
ENST00000642679.1:c.-97G>A	ENSP00000495407.1:n.-97G>A
ENST00000372736.3:c.150+1238G>A	ENSP00000361821.3:n.150+1238G>A
ENST00000372748.7:c.186G>A	ENSP00000361834.3:p.Pro62=
ENST00000417105.5:c.151G>A
ENST00000461118.5:n.755G>A
ENST00000482722.5:n.146G>A
ENST00000488463.5:n.237G>A
ENST00000496215.5:n.335G>A
NM_001852.3:c.186G>A	NP_001843.1:p.Pro62=
XM_006710365.2:c.186G>A	XP_006710428.1:p.Pro62=
XM_011540714.1:c.186G>A	XP_011539016.1:p.Pro62=
XM_011540715.1:c.-97G>A	XP_011539017.1:n.-97G>A
XM_011540716.1:c.-97G>A	XP_011539018.1:n.-97G>A
XM_011540717.1:c.-701G>A	XP_011539019.1:n.-701G>A
XM_011540718.1:c.186G>A	XP_011539020.1:p.Pro62=
XM_006710365.3:c.186G>A	XP_006710428.1:p.Pro62=
XM_011540715.2:c.-97G>A	XP_011539017.1:n.-97G>A
XM_011540716.2:c.-97G>A	XP_011539018.1:n.-97G>A
XM_011540717.2:c.-701G>A	XP_011539019.1:n.-701G>A
XM_017000332.1:c.186G>A	XP_016855821.1:p.Pro62=
XM_017000333.1:c.-97G>A	XP_016855822.1:n.-97G>A
NM_001852.4:c.186G>A MANE Select	NP_001843.1:p.Pro62=