Canonical Allele Identifier: CA349867182
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050660G>A , CM000664.2:g.189050660G>A GRCh38
NC_000002.11:g.189915386G>A , CM000664.1:g.189915386G>A GRCh37
NC_000002.10:g.189623631G>A NCBI36
NG_011799.1:g.134220C>T
NG_011799.2:g.134220C>T
NG_011799.3:g.179642C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2948C>T MANE Select ENSP00000364000.3:p.Pro983Leu
ENST00000374866.7:c.2948C>T ENSP00000364000.3:p.Pro983Leu
ENST00000618828.1:c.1787C>T ENSP00000482184.1:p.Pro596Leu
NM_000393.3:c.2948C>T NP_000384.2:p.Pro983Leu
XM_011510573.1:c.2810C>T XP_011508875.1:p.Pro937Leu
NM_000393.4:c.2948C>T NP_000384.2:p.Pro983Leu
XM_011510573.3:c.2810C>T XP_011508875.1:p.Pro937Leu
NM_000393.5:c.2948C>T MANE Select NP_000384.2:p.Pro983Leu