Canonical Allele Identifier: CA1315416195
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043154A= , CM000664.2:g.189043154A= GRCh38
NC_000002.11:g.189907880A= , CM000664.1:g.189907880A= GRCh37
NC_000002.10:g.189616125A= NCBI36
NG_011799.1:g.141726T=
NG_011799.2:g.141726T=
NG_011799.3:g.187148T=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3468T= MANE Select ENSP00000364000.3:p.Pro1156=
ENST00000374866.7:c.3468T= ENSP00000364000.3:p.Pro1156=
ENST00000618828.1:c.2307T= ENSP00000482184.1:p.Pro769=
NM_000393.3:c.3468T= NP_000384.2:p.Pro1156=
XM_011510573.1:c.3330T= XP_011508875.1:p.Pro1110=
NM_000393.4:c.3468T= NP_000384.2:p.Pro1156=
XM_011510573.3:c.3330T= XP_011508875.1:p.Pro1110=
NM_000393.5:c.3468T= MANE Select NP_000384.2:p.Pro1156=