Canonical Allele Identifier: CA1315418764

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045826C= , CM000664.2:g.189045826C=	GRCh38
NC_000002.11:g.189910552C= , CM000664.1:g.189910552C=	GRCh37
NC_000002.10:g.189618797C=	NCBI36
NG_011799.1:g.139054G=
NG_011799.2:g.139054G=
NG_011799.3:g.184476G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3283G= MANE Select	ENSP00000364000.3:p.Gly1095=
ENST00000374866.7:c.3283G=	ENSP00000364000.3:p.Gly1095=
ENST00000618828.1:c.2122G=	ENSP00000482184.1:p.Gly708=
NM_000393.3:c.3283G=	NP_000384.2:p.Gly1095=
XM_011510573.1:c.3145G=	XP_011508875.1:p.Gly1049=
NM_000393.4:c.3283G=	NP_000384.2:p.Gly1095=
XM_011510573.3:c.3145G=	XP_011508875.1:p.Gly1049=
NM_000393.5:c.3283G= MANE Select	NP_000384.2:p.Gly1095=