Canonical Allele Identifier: CA1315425039

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050628T= , CM000664.2:g.189050628T=	GRCh38
NC_000002.11:g.189915354T= , CM000664.1:g.189915354T=	GRCh37
NC_000002.10:g.189623599T=	NCBI36
NG_011799.1:g.134252A=
NG_011799.2:g.134252A=
NG_011799.3:g.179674A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2980A= MANE Select	ENSP00000364000.3:p.Ile994=
ENST00000374866.7:c.2980A=	ENSP00000364000.3:p.Ile994=
ENST00000618828.1:c.1819A=	ENSP00000482184.1:p.Ile607=
NM_000393.3:c.2980A=	NP_000384.2:p.Ile994=
XM_011510573.1:c.2842A=	XP_011508875.1:p.Ile948=
NM_000393.4:c.2980A=	NP_000384.2:p.Ile994=
XM_011510573.3:c.2842A=	XP_011508875.1:p.Ile948=
NM_000393.5:c.2980A= MANE Select	NP_000384.2:p.Ile994=