Canonical Allele Identifier: CA1315430382
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062972C= , CM000664.2:g.189062972C= GRCh38
NC_000002.11:g.189927698C= , CM000664.1:g.189927698C= GRCh37
NC_000002.10:g.189635943C= NCBI36
NG_011799.1:g.121908G=
NG_011799.2:g.121908G=
NG_011799.3:g.167330G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1923+38G= MANE Select ENSP00000364000.3:n.1923+38G=
ENST00000374866.7:c.1923+38G= ENSP00000364000.3:n.1923+38G=
ENST00000470524.2:n.29+38G=
ENST00000618828.1:c.762+38G= ENSP00000482184.1:n.762+38G=
NM_000393.3:c.1923+38G= NP_000384.2:n.1923+38G=
XM_011510573.1:c.1785+38G= XP_011508875.1:n.1785+38G=
NM_000393.4:c.1923+38G= NP_000384.2:n.1923+38G=
XM_011510573.3:c.1785+38G= XP_011508875.1:n.1785+38G=
NM_000393.5:c.1923+38G= MANE Select NP_000384.2:n.1923+38G=