Canonical Allele Identifier: CA1315430258

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062688G= , CM000664.2:g.189062688G=	GRCh38
NC_000002.11:g.189927414G= , CM000664.1:g.189927414G=	GRCh37
NC_000002.10:g.189635659G=	NCBI36
NG_011799.1:g.122192C=
NG_011799.2:g.122192C=
NG_011799.3:g.167614C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+177C= MANE Select	ENSP00000364000.3:n.1977+177C=
ENST00000374866.7:c.1977+177C=	ENSP00000364000.3:n.1977+177C=
ENST00000470524.2:n.83+177C=
ENST00000618828.1:c.816+177C=	ENSP00000482184.1:n.816+177C=
NM_000393.3:c.1977+177C=	NP_000384.2:n.1977+177C=
XM_011510573.1:c.1839+177C=	XP_011508875.1:n.1839+177C=
NM_000393.4:c.1977+177C=	NP_000384.2:n.1977+177C=
XM_011510573.3:c.1839+177C=	XP_011508875.1:n.1839+177C=
NM_000393.5:c.1977+177C= MANE Select	NP_000384.2:n.1977+177C=