Canonical Allele Identifier: CA1315428529
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058851T= , CM000664.2:g.189058851T= GRCh38
NC_000002.11:g.189923577T= , CM000664.1:g.189923577T= GRCh37
NC_000002.10:g.189631822T= NCBI36
NG_011799.1:g.126029A=
NG_011799.2:g.126029A=
NG_011799.3:g.171451A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2128A= MANE Select ENSP00000364000.3:p.Arg710=
ENST00000374866.7:c.2128A= ENSP00000364000.3:p.Arg710=
ENST00000470524.2:n.234A=
ENST00000618828.1:c.967A= ENSP00000482184.1:p.Arg323=
NM_000393.3:c.2128A= NP_000384.2:p.Arg710=
XM_011510573.1:c.1990A= XP_011508875.1:p.Arg664=
NM_000393.4:c.2128A= NP_000384.2:p.Arg710=
XM_011510573.3:c.1990A= XP_011508875.1:p.Arg664=
NM_000393.5:c.2128A= MANE Select NP_000384.2:p.Arg710=