Canonical Allele Identifier: CA1315422605
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189035124G= , CM000664.2:g.189035124G= GRCh38
NC_000002.11:g.189899850G= , CM000664.1:g.189899850G= GRCh37
NC_000002.10:g.189608095G= NCBI36
NG_011799.1:g.149756C=
NG_011799.2:g.149756C=
NG_011799.3:g.195178C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.4145C= MANE Select ENSP00000364000.3:p.Thr1382=
ENST00000374866.7:c.4145C= ENSP00000364000.3:p.Thr1382=
ENST00000618828.1:c.2984C= ENSP00000482184.1:p.Thr995=
NM_000393.3:c.4145C= NP_000384.2:p.Thr1382=
XM_011510573.1:c.4007C= XP_011508875.1:p.Thr1336=
NM_000393.4:c.4145C= NP_000384.2:p.Thr1382=
XM_011510573.3:c.4007C= XP_011508875.1:p.Thr1336=
NM_000393.5:c.4145C= MANE Select NP_000384.2:p.Thr1382=