Canonical Allele Identifier: CA791814

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40310716G>A , CM000663.2:g.40310716G>A	GRCh38
NC_000001.10:g.40776388G>A , CM000663.1:g.40776388G>A	GRCh37
NC_000001.9:g.40548975G>A	NCBI36
NG_008031.1:g.11552C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.682C>T MANE Select	NP_001843.1:p.Pro228Ser
ENST00000372748.8:c.682C>T MANE Select	ENSP00000361834.3:p.Pro228Ser
NM_001852.3:c.682C>T	NP_001843.1:p.Pro228Ser
ENST00000372748.7:c.682C>T	ENSP00000361834.3:p.Pro228Ser
ENST00000417105.5:c.647C>T
ENST00000417105.6:c.400C>T	ENSP00000388493.2:p.Pro134Ser
ENST00000482722.5:n.985C>T
ENST00000488463.5:n.733C>T
ENST00000488463.6:n.733C>T
XM_006710365.2:c.682C>T	XP_006710428.1:p.Pro228Ser
XM_006710365.3:c.682C>T	XP_006710428.1:p.Pro228Ser
XM_011540714.1:c.694C>T	XP_011539016.1:p.Pro232Ser
XM_011540715.1:c.412C>T	XP_011539017.1:p.Pro138Ser
XM_011540715.2:c.412C>T	XP_011539017.1:p.Pro138Ser
XM_011540716.1:c.412C>T	XP_011539018.1:p.Pro138Ser
XM_011540716.2:c.412C>T	XP_011539018.1:p.Pro138Ser
XM_011540717.1:c.139C>T	XP_011539019.1:p.Pro47Ser
XM_011540717.2:c.139C>T	XP_011539019.1:p.Pro47Ser
XM_011540718.1:c.694C>T	XP_011539020.1:p.Pro232Ser
XM_017000332.1:c.694C>T	XP_016855821.1:p.Pro232Ser
XM_017000333.1:c.400C>T	XP_016855822.1:p.Pro134Ser