Canonical Allele Identifier: CA1315430355
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062909C= , CM000664.2:g.189062909C= GRCh38
NC_000002.11:g.189927635C= , CM000664.1:g.189927635C= GRCh37
NC_000002.10:g.189635880C= NCBI36
NG_011799.1:g.121971G=
NG_011799.2:g.121971G=
NG_011799.3:g.167393G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1933G= MANE Select ENSP00000364000.3:p.Gly645=
ENST00000374866.7:c.1933G= ENSP00000364000.3:p.Gly645=
ENST00000470524.2:n.39G=
ENST00000618828.1:c.772G= ENSP00000482184.1:p.Gly258=
NM_000393.3:c.1933G= NP_000384.2:p.Gly645=
XM_011510573.1:c.1795G= XP_011508875.1:p.Gly599=
NM_000393.4:c.1933G= NP_000384.2:p.Gly645=
XM_011510573.3:c.1795G= XP_011508875.1:p.Gly599=
NM_000393.5:c.1933G= MANE Select NP_000384.2:p.Gly645=