Canonical Allele Identifier: CA1315428493
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058751A= , CM000664.2:g.189058751A= GRCh38
NC_000002.11:g.189923477A= , CM000664.1:g.189923477A= GRCh37
NC_000002.10:g.189631722A= NCBI36
NG_011799.1:g.126129T=
NG_011799.2:g.126129T=
NG_011799.3:g.171551T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2130+98T= MANE Select ENSP00000364000.3:n.2130+98T=
ENST00000374866.7:c.2130+98T= ENSP00000364000.3:n.2130+98T=
ENST00000470524.2:n.236+98T=
ENST00000618828.1:c.969+98T= ENSP00000482184.1:n.969+98T=
NM_000393.3:c.2130+98T= NP_000384.2:n.2130+98T=
XM_011510573.1:c.1992+98T= XP_011508875.1:n.1992+98T=
NM_000393.4:c.2130+98T= NP_000384.2:n.2130+98T=
XM_011510573.3:c.1992+98T= XP_011508875.1:n.1992+98T=
NM_000393.5:c.2130+98T= MANE Select NP_000384.2:n.2130+98T=