Canonical Allele Identifier: CA1315426048
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189052954C= , CM000664.2:g.189052954C= GRCh38
NC_000002.11:g.189917680C= , CM000664.1:g.189917680C= GRCh37
NC_000002.10:g.189625925C= NCBI36
NG_011799.1:g.131926G=
NG_011799.2:g.131926G=
NG_011799.3:g.177348G=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2618G= MANE Select ENSP00000364000.3:p.Gly873=
ENST00000374866.7:c.2618G= ENSP00000364000.3:p.Gly873=
ENST00000618828.1:c.1457G= ENSP00000482184.1:p.Gly486=
NM_000393.3:c.2618G= NP_000384.2:p.Gly873=
XM_011510573.1:c.2480G= XP_011508875.1:p.Gly827=
NM_000393.4:c.2618G= NP_000384.2:p.Gly873=
XM_011510573.3:c.2480G= XP_011508875.1:p.Gly827=
NM_000393.5:c.2618G= MANE Select NP_000384.2:p.Gly873=