Canonical Allele Identifier: CA1315428490

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058746A= , CM000664.2:g.189058746A=	GRCh38
NC_000002.11:g.189923472A= , CM000664.1:g.189923472A=	GRCh37
NC_000002.10:g.189631717A=	NCBI36
NG_011799.1:g.126134T=
NG_011799.2:g.126134T=
NG_011799.3:g.171556T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+103T= MANE Select	ENSP00000364000.3:n.2130+103T=
ENST00000374866.7:c.2130+103T=	ENSP00000364000.3:n.2130+103T=
ENST00000470524.2:n.236+103T=
ENST00000618828.1:c.969+103T=	ENSP00000482184.1:n.969+103T=
NM_000393.3:c.2130+103T=	NP_000384.2:n.2130+103T=
XM_011510573.1:c.1992+103T=	XP_011508875.1:n.1992+103T=
NM_000393.4:c.2130+103T=	NP_000384.2:n.2130+103T=
XM_011510573.3:c.1992+103T=	XP_011508875.1:n.1992+103T=
NM_000393.5:c.2130+103T= MANE Select	NP_000384.2:n.2130+103T=