Canonical Allele Identifier: CA1315428526

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058845T= , CM000664.2:g.189058845T=	GRCh38
NC_000002.11:g.189923571T= , CM000664.1:g.189923571T=	GRCh37
NC_000002.10:g.189631816T=	NCBI36
NG_011799.1:g.126035A=
NG_011799.2:g.126035A=
NG_011799.3:g.171457A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+4A= MANE Select	ENSP00000364000.3:n.2130+4A=
ENST00000374866.7:c.2130+4A=	ENSP00000364000.3:n.2130+4A=
ENST00000470524.2:n.236+4A=
ENST00000618828.1:c.969+4A=	ENSP00000482184.1:n.969+4A=
NM_000393.3:c.2130+4A=	NP_000384.2:n.2130+4A=
XM_011510573.1:c.1992+4A=	XP_011508875.1:n.1992+4A=
NM_000393.4:c.2130+4A=	NP_000384.2:n.2130+4A=
XM_011510573.3:c.1992+4A=	XP_011508875.1:n.1992+4A=
NM_000393.5:c.2130+4A= MANE Select	NP_000384.2:n.2130+4A=