Canonical Allele Identifier: CA1315418743

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045813T= , CM000664.2:g.189045813T=	GRCh38
NC_000002.11:g.189910539T= , CM000664.1:g.189910539T=	GRCh37
NC_000002.10:g.189618784T=	NCBI36
NG_011799.1:g.139067A=
NG_011799.2:g.139067A=
NG_011799.3:g.184489A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3296A= MANE Select	ENSP00000364000.3:p.Gln1099=
ENST00000374866.7:c.3296A=	ENSP00000364000.3:p.Gln1099=
ENST00000618828.1:c.2135A=	ENSP00000482184.1:p.Gln712=
NM_000393.3:c.3296A=	NP_000384.2:p.Gln1099=
XM_011510573.1:c.3158A=	XP_011508875.1:p.Gln1053=
NM_000393.4:c.3296A=	NP_000384.2:p.Gln1099=
XM_011510573.3:c.3158A=	XP_011508875.1:p.Gln1053=
NM_000393.5:c.3296A= MANE Select	NP_000384.2:p.Gln1099=