Canonical Allele Identifier: CA2574330985

Gene: COL9A2

Linked Data

• gnomAD v4: 1-40306064-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40306064G>T , CM000663.2:g.40306064G>T	GRCh38
NC_000001.10:g.40771736G>T , CM000663.1:g.40771736G>T	GRCh37
NC_000001.9:g.40544323G>T	NCBI36
NG_008031.1:g.16204C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1053+79C>A MANE Select	ENSP00000361834.3:n.1053+79C>A
ENST00000372748.7:c.1053+79C>A	ENSP00000361834.3:n.1053+79C>A
ENST00000482722.5:n.1356+79C>A
NM_001852.3:c.1053+79C>A	NP_001843.1:n.1053+79C>A
XM_006710365.2:c.1053+79C>A	XP_006710428.1:n.1053+79C>A
XM_011540714.1:c.1065+79C>A	XP_011539016.1:n.1065+79C>A
XM_011540715.1:c.783+79C>A	XP_011539017.1:n.783+79C>A
XM_011540716.1:c.783+79C>A	XP_011539018.1:n.783+79C>A
XM_011540717.1:c.510+79C>A	XP_011539019.1:n.510+79C>A
XM_006710365.3:c.1053+79C>A	XP_006710428.1:n.1053+79C>A
XM_011540715.2:c.783+79C>A	XP_011539017.1:n.783+79C>A
XM_011540716.2:c.783+79C>A	XP_011539018.1:n.783+79C>A
XM_011540717.2:c.510+79C>A	XP_011539019.1:n.510+79C>A
XM_017000332.1:c.1065+79C>A	XP_016855821.1:n.1065+79C>A
XM_017000333.1:c.771+79C>A	XP_016855822.1:n.771+79C>A
NM_001852.4:c.1053+79C>A MANE Select	NP_001843.1:n.1053+79C>A