Canonical Allele Identifier: CA1164337260
Gene: COL9A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40306074T= , CM000663.2:g.40306074T= GRCh38
NC_000001.10:g.40771746T= , CM000663.1:g.40771746T= GRCh37
NC_000001.9:g.40544333T= NCBI36
NG_008031.1:g.16194A=

Transcript Alleles

HGVS Amino-acid change
ENST00000372748.8:c.1053+69A= MANE Select ENSP00000361834.3:n.1053+69A=
ENST00000372748.7:c.1053+69A= ENSP00000361834.3:n.1053+69A=
ENST00000482722.5:n.1356+69A=
NM_001852.3:c.1053+69A= NP_001843.1:n.1053+69A=
XM_006710365.2:c.1053+69A= XP_006710428.1:n.1053+69A=
XM_011540714.1:c.1065+69A= XP_011539016.1:n.1065+69A=
XM_011540715.1:c.783+69A= XP_011539017.1:n.783+69A=
XM_011540716.1:c.783+69A= XP_011539018.1:n.783+69A=
XM_011540717.1:c.510+69A= XP_011539019.1:n.510+69A=
XM_006710365.3:c.1053+69A= XP_006710428.1:n.1053+69A=
XM_011540715.2:c.783+69A= XP_011539017.1:n.783+69A=
XM_011540716.2:c.783+69A= XP_011539018.1:n.783+69A=
XM_011540717.2:c.510+69A= XP_011539019.1:n.510+69A=
XM_017000332.1:c.1065+69A= XP_016855821.1:n.1065+69A=
XM_017000333.1:c.771+69A= XP_016855822.1:n.771+69A=
NM_001852.4:c.1053+69A= MANE Select NP_001843.1:n.1053+69A=