Canonical Allele Identifier: CA1164337283

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40306142C= , CM000663.2:g.40306142C=	GRCh38
NC_000001.10:g.40771814C= , CM000663.1:g.40771814C=	GRCh37
NC_000001.9:g.40544401C=	NCBI36
NG_008031.1:g.16126G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1053+1G= MANE Select	ENSP00000361834.3:n.1053+1G=
ENST00000372748.7:c.1053+1G=	ENSP00000361834.3:n.1053+1G=
ENST00000482722.5:n.1356+1G=
NM_001852.3:c.1053+1G=	NP_001843.1:n.1053+1G=
XM_006710365.2:c.1053+1G=	XP_006710428.1:n.1053+1G=
XM_011540714.1:c.1065+1G=	XP_011539016.1:n.1065+1G=
XM_011540715.1:c.783+1G=	XP_011539017.1:n.783+1G=
XM_011540716.1:c.783+1G=	XP_011539018.1:n.783+1G=
XM_011540717.1:c.510+1G=	XP_011539019.1:n.510+1G=
XM_006710365.3:c.1053+1G=	XP_006710428.1:n.1053+1G=
XM_011540715.2:c.783+1G=	XP_011539017.1:n.783+1G=
XM_011540716.2:c.783+1G=	XP_011539018.1:n.783+1G=
XM_011540717.2:c.510+1G=	XP_011539019.1:n.510+1G=
XM_017000332.1:c.1065+1G=	XP_016855821.1:n.1065+1G=
XM_017000333.1:c.771+1G=	XP_016855822.1:n.771+1G=
NM_001852.4:c.1053+1G= MANE Select	NP_001843.1:n.1053+1G=