Canonical Allele Identifier: CA1315430354
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062907T= , CM000664.2:g.189062907T= GRCh38
NC_000002.11:g.189927633T= , CM000664.1:g.189927633T= GRCh37
NC_000002.10:g.189635878T= NCBI36
NG_011799.1:g.121973A=
NG_011799.2:g.121973A=
NG_011799.3:g.167395A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1935A= MANE Select ENSP00000364000.3:p.Gly645=
ENST00000374866.7:c.1935A= ENSP00000364000.3:p.Gly645=
ENST00000470524.2:n.41A=
ENST00000618828.1:c.774A= ENSP00000482184.1:p.Gly258=
NM_000393.3:c.1935A= NP_000384.2:p.Gly645=
XM_011510573.1:c.1797A= XP_011508875.1:p.Gly599=
NM_000393.4:c.1935A= NP_000384.2:p.Gly645=
XM_011510573.3:c.1797A= XP_011508875.1:p.Gly599=
NM_000393.5:c.1935A= MANE Select NP_000384.2:p.Gly645=