Canonical Allele Identifier: CA349862558
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045846G>T , CM000664.2:g.189045846G>T GRCh38
NC_000002.11:g.189910572G>T , CM000664.1:g.189910572G>T GRCh37
NC_000002.10:g.189618817G>T NCBI36
NG_011799.1:g.139034C>A
NG_011799.2:g.139034C>A
NG_011799.3:g.184456C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3263C>A MANE Select ENSP00000364000.3:p.Pro1088His
ENST00000374866.7:c.3263C>A ENSP00000364000.3:p.Pro1088His
ENST00000618828.1:c.2102C>A ENSP00000482184.1:p.Pro701His
NM_000393.3:c.3263C>A NP_000384.2:p.Pro1088His
XM_011510573.1:c.3125C>A XP_011508875.1:p.Pro1042His
NM_000393.4:c.3263C>A NP_000384.2:p.Pro1088His
XM_011510573.3:c.3125C>A XP_011508875.1:p.Pro1042His
NM_000393.5:c.3263C>A MANE Select NP_000384.2:p.Pro1088His