Canonical Allele Identifier: CA1315422599
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189035116T= , CM000664.2:g.189035116T= GRCh38
NC_000002.11:g.189899842T= , CM000664.1:g.189899842T= GRCh37
NC_000002.10:g.189608087T= NCBI36
NG_011799.1:g.149764A=
NG_011799.2:g.149764A=
NG_011799.3:g.195186A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.4153A= MANE Select ENSP00000364000.3:p.Thr1385=
ENST00000374866.7:c.4153A= ENSP00000364000.3:p.Thr1385=
ENST00000618828.1:c.2992A= ENSP00000482184.1:p.Thr998=
NM_000393.3:c.4153A= NP_000384.2:p.Thr1385=
XM_011510573.1:c.4015A= XP_011508875.1:p.Thr1339=
NM_000393.4:c.4153A= NP_000384.2:p.Thr1385=
XM_011510573.3:c.4015A= XP_011508875.1:p.Thr1339=
NM_000393.5:c.4153A= MANE Select NP_000384.2:p.Thr1385=