Canonical Allele Identifier: CA1315418815
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045861C= , CM000664.2:g.189045861C= GRCh38
NC_000002.11:g.189910587C= , CM000664.1:g.189910587C= GRCh37
NC_000002.10:g.189618832C= NCBI36
NG_011799.1:g.139019G=
NG_011799.2:g.139019G=
NG_011799.3:g.184441G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3248G= MANE Select ENSP00000364000.3:p.Gly1083=
ENST00000374866.7:c.3248G= ENSP00000364000.3:p.Gly1083=
ENST00000618828.1:c.2087G= ENSP00000482184.1:p.Gly696=
NM_000393.3:c.3248G= NP_000384.2:p.Gly1083=
XM_011510573.1:c.3110G= XP_011508875.1:p.Gly1037=
NM_000393.4:c.3248G= NP_000384.2:p.Gly1083=
XM_011510573.3:c.3110G= XP_011508875.1:p.Gly1037=
NM_000393.5:c.3248G= MANE Select NP_000384.2:p.Gly1083=