Canonical Allele Identifier: CA2022445
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 501572
dbSNP Id: rs376612765

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058876G>A , CM000664.2:g.189058876G>A GRCh38
NC_000002.11:g.189923602G>A , CM000664.1:g.189923602G>A GRCh37
NC_000002.10:g.189631847G>A NCBI36
NG_011799.1:g.126004C>T
NG_011799.2:g.126004C>T
NG_011799.3:g.171426C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2103C>T MANE Select ENSP00000364000.3:p.Pro701=
ENST00000374866.7:c.2103C>T ENSP00000364000.3:p.Pro701=
ENST00000470524.2:n.209C>T
ENST00000618828.1:c.942C>T ENSP00000482184.1:p.Pro314=
NM_000393.3:c.2103C>T NP_000384.2:p.Pro701=
XM_011510573.1:c.1965C>T XP_011508875.1:p.Pro655=
NM_000393.4:c.2103C>T NP_000384.2:p.Pro701=
XM_011510573.3:c.1965C>T XP_011508875.1:p.Pro655=
NM_000393.5:c.2103C>T MANE Select NP_000384.2:p.Pro701=