Canonical Allele Identifier: CA1315428524
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058833A= , CM000664.2:g.189058833A= GRCh38
NC_000002.11:g.189923559A= , CM000664.1:g.189923559A= GRCh37
NC_000002.10:g.189631804A= NCBI36
NG_011799.1:g.126047T=
NG_011799.2:g.126047T=
NG_011799.3:g.171469T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2130+16T= MANE Select ENSP00000364000.3:n.2130+16T=
ENST00000374866.7:c.2130+16T= ENSP00000364000.3:n.2130+16T=
ENST00000470524.2:n.236+16T=
ENST00000618828.1:c.969+16T= ENSP00000482184.1:n.969+16T=
NM_000393.3:c.2130+16T= NP_000384.2:n.2130+16T=
XM_011510573.1:c.1992+16T= XP_011508875.1:n.1992+16T=
NM_000393.4:c.2130+16T= NP_000384.2:n.2130+16T=
XM_011510573.3:c.1992+16T= XP_011508875.1:n.1992+16T=
NM_000393.5:c.2130+16T= MANE Select NP_000384.2:n.2130+16T=