Canonical Allele Identifier: CA322643
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213140
dbSNP Id: rs779153546

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098753C>T , CM000664.2:g.189098753C>T GRCh38
NC_000002.11:g.189963479C>T , CM000664.1:g.189963479C>T GRCh37
NC_000002.10:g.189671724C>T NCBI36
NG_011799.1:g.86127G>A
NG_011799.2:g.86127G>A
NG_011799.3:g.131549G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.376G>A MANE Select ENSP00000364000.3:p.Gly126Ser
ENST00000649966.1:c.238G>A ENSP00000496785.1:p.Gly80Ser
ENST00000374866.7:c.376G>A ENSP00000364000.3:p.Gly126Ser
ENST00000618828.1:c.-255G>A ENSP00000482184.1:n.-255G>A
NM_000393.3:c.376G>A NP_000384.2:p.Gly126Ser
XM_011510573.1:c.238G>A XP_011508875.1:p.Gly80Ser
NM_000393.4:c.376G>A NP_000384.2:p.Gly126Ser
XM_011510573.3:c.238G>A XP_011508875.1:p.Gly80Ser
NM_000393.5:c.376G>A MANE Select NP_000384.2:p.Gly126Ser