Canonical Allele Identifier: CA791552

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40304532G>A , CM000663.2:g.40304532G>A	GRCh38
NC_000001.10:g.40770204G>A , CM000663.1:g.40770204G>A	GRCh37
NC_000001.9:g.40542791G>A	NCBI36
NG_008031.1:g.17736C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1162-3C>T MANE Select	NP_001843.1:n.1162-3C>T
ENST00000372748.8:c.1162-3C>T MANE Select	ENSP00000361834.3:n.1162-3C>T
NM_001852.3:c.1162-3C>T	NP_001843.1:n.1162-3C>T
ENST00000372748.7:c.1162-3C>T	ENSP00000361834.3:n.1162-3C>T
ENST00000466267.1:n.127-3C>T
ENST00000482722.5:n.1465-3C>T
XM_006710365.2:c.1162-3C>T	XP_006710428.1:n.1162-3C>T
XM_006710365.3:c.1162-3C>T	XP_006710428.1:n.1162-3C>T
XM_011540714.1:c.1174-3C>T	XP_011539016.1:n.1174-3C>T
XM_011540715.1:c.892-3C>T	XP_011539017.1:n.892-3C>T
XM_011540715.2:c.892-3C>T	XP_011539017.1:n.892-3C>T
XM_011540716.1:c.892-3C>T	XP_011539018.1:n.892-3C>T
XM_011540716.2:c.892-3C>T	XP_011539018.1:n.892-3C>T
XM_011540717.1:c.619-3C>T	XP_011539019.1:n.619-3C>T
XM_011540717.2:c.619-3C>T	XP_011539019.1:n.619-3C>T
XM_017000332.1:c.1174-3C>T	XP_016855821.1:n.1174-3C>T
XM_017000333.1:c.880-3C>T	XP_016855822.1:n.880-3C>T