Canonical Allele Identifier: CA417330097

Gene: COL9A2

Linked Data

• MyVariant Identifiers: chr1:g.40771821T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40306149T>G , CM000663.2:g.40306149T>G	GRCh38
NC_000001.10:g.40771821T>G , CM000663.1:g.40771821T>G	GRCh37
NC_000001.9:g.40544408T>G	NCBI36
NG_008031.1:g.16119A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372748.8:c.1047A>C MANE Select	ENSP00000361834.3:p.Gly349=
ENST00000372748.7:c.1047A>C	ENSP00000361834.3:p.Gly349=
ENST00000482722.5:n.1350A>C
NM_001852.3:c.1047A>C	NP_001843.1:p.Gly349=
XM_006710365.2:c.1047A>C	XP_006710428.1:p.Gly349=
XM_011540714.1:c.1059A>C	XP_011539016.1:p.Gly353=
XM_011540715.1:c.777A>C	XP_011539017.1:p.Gly259=
XM_011540716.1:c.777A>C	XP_011539018.1:p.Gly259=
XM_011540717.1:c.504A>C	XP_011539019.1:p.Gly168=
XM_006710365.3:c.1047A>C	XP_006710428.1:p.Gly349=
XM_011540715.2:c.777A>C	XP_011539017.1:p.Gly259=
XM_011540716.2:c.777A>C	XP_011539018.1:p.Gly259=
XM_011540717.2:c.504A>C	XP_011539019.1:p.Gly168=
XM_017000332.1:c.1059A>C	XP_016855821.1:p.Gly353=
XM_017000333.1:c.765A>C	XP_016855822.1:p.Gly255=
NM_001852.4:c.1047A>C MANE Select	NP_001843.1:p.Gly349=