Canonical Allele Identifier: CA1315425037

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050625C= , CM000664.2:g.189050625C=	GRCh38
NC_000002.11:g.189915351C= , CM000664.1:g.189915351C=	GRCh37
NC_000002.10:g.189623596C=	NCBI36
NG_011799.1:g.134255G=
NG_011799.2:g.134255G=
NG_011799.3:g.179677G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2983G= MANE Select	ENSP00000364000.3:p.Val995=
ENST00000374866.7:c.2983G=	ENSP00000364000.3:p.Val995=
ENST00000618828.1:c.1822G=	ENSP00000482184.1:p.Val608=
NM_000393.3:c.2983G=	NP_000384.2:p.Val995=
XM_011510573.1:c.2845G=	XP_011508875.1:p.Val949=
NM_000393.4:c.2983G=	NP_000384.2:p.Val995=
XM_011510573.3:c.2845G=	XP_011508875.1:p.Val949=
NM_000393.5:c.2983G= MANE Select	NP_000384.2:p.Val995=