Canonical Allele Identifier: CA1315428530
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058852A= , CM000664.2:g.189058852A= GRCh38
NC_000002.11:g.189923578A= , CM000664.1:g.189923578A= GRCh37
NC_000002.10:g.189631823A= NCBI36
NG_011799.1:g.126028T=
NG_011799.2:g.126028T=
NG_011799.3:g.171450T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2127T= MANE Select ENSP00000364000.3:p.Pro709=
ENST00000374866.7:c.2127T= ENSP00000364000.3:p.Pro709=
ENST00000470524.2:n.233T=
ENST00000618828.1:c.966T= ENSP00000482184.1:p.Pro322=
NM_000393.3:c.2127T= NP_000384.2:p.Pro709=
XM_011510573.1:c.1989T= XP_011508875.1:p.Pro663=
NM_000393.4:c.2127T= NP_000384.2:p.Pro709=
XM_011510573.3:c.1989T= XP_011508875.1:p.Pro663=
NM_000393.5:c.2127T= MANE Select NP_000384.2:p.Pro709=