Canonical Allele Identifier: CA1315445939
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098829A= , CM000664.2:g.189098829A= GRCh38
NC_000002.11:g.189963555A= , CM000664.1:g.189963555A= GRCh37
NC_000002.10:g.189671800A= NCBI36
NG_011799.1:g.86051T=
NG_011799.2:g.86051T=
NG_011799.3:g.131473T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.370-70T= MANE Select ENSP00000364000.3:n.370-70T=
ENST00000649966.1:c.232-70T= ENSP00000496785.1:n.232-70T=
ENST00000374866.7:c.370-70T= ENSP00000364000.3:n.370-70T=
ENST00000618828.1:c.-261-70T= ENSP00000482184.1:n.-261-70T=
NM_000393.3:c.370-70T= NP_000384.2:n.370-70T=
XM_011510573.1:c.232-70T= XP_011508875.1:n.232-70T=
NM_000393.4:c.370-70T= NP_000384.2:n.370-70T=
XM_011510573.3:c.232-70T= XP_011508875.1:n.232-70T=
NM_000393.5:c.370-70T= MANE Select NP_000384.2:n.370-70T=