Canonical Allele Identifier: CA1315425043
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050640C= , CM000664.2:g.189050640C= GRCh38
NC_000002.11:g.189915366C= , CM000664.1:g.189915366C= GRCh37
NC_000002.10:g.189623611C= NCBI36
NG_011799.1:g.134240G=
NG_011799.2:g.134240G=
NG_011799.3:g.179662G=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2968G= MANE Select ENSP00000364000.3:p.Gly990=
ENST00000374866.7:c.2968G= ENSP00000364000.3:p.Gly990=
ENST00000618828.1:c.1807G= ENSP00000482184.1:p.Gly603=
NM_000393.3:c.2968G= NP_000384.2:p.Gly990=
XM_011510573.1:c.2830G= XP_011508875.1:p.Gly944=
NM_000393.4:c.2968G= NP_000384.2:p.Gly990=
XM_011510573.3:c.2830G= XP_011508875.1:p.Gly944=
NM_000393.5:c.2968G= MANE Select NP_000384.2:p.Gly990=