Canonical Allele Identifier: CA791521

Gene: COL9A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40304370G>A , CM000663.2:g.40304370G>A	GRCh38
NC_000001.10:g.40770042G>A , CM000663.1:g.40770042G>A	GRCh37
NC_000001.9:g.40542629G>A	NCBI36
NG_008031.1:g.17898C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001852.4:c.1237C>T MANE Select	NP_001843.1:p.Pro413Ser
ENST00000372748.8:c.1237C>T MANE Select	ENSP00000361834.3:p.Pro413Ser
NM_001852.3:c.1237C>T	NP_001843.1:p.Pro413Ser
ENST00000372748.7:c.1237C>T	ENSP00000361834.3:p.Pro413Ser
ENST00000427563.1:c.48C>T	ENSP00000407377.1:p.Ala16=
ENST00000466267.1:n.202C>T
ENST00000482722.5:n.1540C>T
XM_006710365.2:c.1237C>T	XP_006710428.1:p.Pro413Ser
XM_006710365.3:c.1237C>T	XP_006710428.1:p.Pro413Ser
XM_011540714.1:c.1249C>T	XP_011539016.1:p.Pro417Ser
XM_011540715.1:c.967C>T	XP_011539017.1:p.Pro323Ser
XM_011540715.2:c.967C>T	XP_011539017.1:p.Pro323Ser
XM_011540716.1:c.967C>T	XP_011539018.1:p.Pro323Ser
XM_011540716.2:c.967C>T	XP_011539018.1:p.Pro323Ser
XM_011540717.1:c.694C>T	XP_011539019.1:p.Pro232Ser
XM_011540717.2:c.694C>T	XP_011539019.1:p.Pro232Ser
XM_017000332.1:c.1249C>T	XP_016855821.1:p.Pro417Ser
XM_017000333.1:c.955C>T	XP_016855822.1:p.Pro319Ser