Canonical Allele Identifier: CA349878961
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062878G>T , CM000664.2:g.189062878G>T GRCh38
NC_000002.11:g.189927604G>T , CM000664.1:g.189927604G>T GRCh37
NC_000002.10:g.189635849G>T NCBI36
NG_011799.1:g.122002C>A
NG_011799.2:g.122002C>A
NG_011799.3:g.167424C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1964C>A MANE Select ENSP00000364000.3:p.Pro655His
ENST00000374866.7:c.1964C>A ENSP00000364000.3:p.Pro655His
ENST00000470524.2:n.70C>A
ENST00000618828.1:c.803C>A ENSP00000482184.1:p.Pro268His
NM_000393.3:c.1964C>A NP_000384.2:p.Pro655His
XM_011510573.1:c.1826C>A XP_011508875.1:p.Pro609His
NM_000393.4:c.1964C>A NP_000384.2:p.Pro655His
XM_011510573.3:c.1826C>A XP_011508875.1:p.Pro609His
NM_000393.5:c.1964C>A MANE Select NP_000384.2:p.Pro655His