Canonical Allele Identifier: CA1315416193

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189043148T= , CM000664.2:g.189043148T=	GRCh38
NC_000002.11:g.189907874T= , CM000664.1:g.189907874T=	GRCh37
NC_000002.10:g.189616119T=	NCBI36
NG_011799.1:g.141732A=
NG_011799.2:g.141732A=
NG_011799.3:g.187154A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3471+3A= MANE Select	ENSP00000364000.3:n.3471+3A=
ENST00000374866.7:c.3471+3A=	ENSP00000364000.3:n.3471+3A=
ENST00000618828.1:c.2310+3A=	ENSP00000482184.1:n.2310+3A=
NM_000393.3:c.3471+3A=	NP_000384.2:n.3471+3A=
XM_011510573.1:c.3333+3A=	XP_011508875.1:n.3333+3A=
NM_000393.4:c.3471+3A=	NP_000384.2:n.3471+3A=
XM_011510573.3:c.3333+3A=	XP_011508875.1:n.3333+3A=
NM_000393.5:c.3471+3A= MANE Select	NP_000384.2:n.3471+3A=