Canonical Allele Identifier: CA1315425119
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050839G= , CM000664.2:g.189050839G= GRCh38
NC_000002.11:g.189915565G= , CM000664.1:g.189915565G= GRCh37
NC_000002.10:g.189623810G= NCBI36
NG_011799.1:g.134041C=
NG_011799.2:g.134041C=
NG_011799.3:g.179463C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2932-163C= MANE Select ENSP00000364000.3:n.2932-163C=
ENST00000374866.7:c.2932-163C= ENSP00000364000.3:n.2932-163C=
ENST00000618828.1:c.1771-163C= ENSP00000482184.1:n.1771-163C=
NM_000393.3:c.2932-163C= NP_000384.2:n.2932-163C=
XM_011510573.1:c.2794-163C= XP_011508875.1:n.2794-163C=
NM_000393.4:c.2932-163C= NP_000384.2:n.2932-163C=
XM_011510573.3:c.2794-163C= XP_011508875.1:n.2794-163C=
NM_000393.5:c.2932-163C= MANE Select NP_000384.2:n.2932-163C=