Canonical Allele Identifier: CA1315416335
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043240C= , CM000664.2:g.189043240C= GRCh38
NC_000002.11:g.189907966C= , CM000664.1:g.189907966C= GRCh37
NC_000002.10:g.189616211C= NCBI36
NG_011799.1:g.141640G=
NG_011799.2:g.141640G=
NG_011799.3:g.187062G=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3382G= MANE Select ENSP00000364000.3:p.Gly1128=
ENST00000374866.7:c.3382G= ENSP00000364000.3:p.Gly1128=
ENST00000618828.1:c.2221G= ENSP00000482184.1:p.Gly741=
NM_000393.3:c.3382G= NP_000384.2:p.Gly1128=
XM_011510573.1:c.3244G= XP_011508875.1:p.Gly1082=
NM_000393.4:c.3382G= NP_000384.2:p.Gly1128=
XM_011510573.3:c.3244G= XP_011508875.1:p.Gly1082=
NM_000393.5:c.3382G= MANE Select NP_000384.2:p.Gly1128=