Canonical Allele Identifier: CA349866971
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2200262
ClinVar RCV Id: RCV002654674
dbSNP Id: rs1216356488

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050606C>T , CM000664.2:g.189050606C>T GRCh38
NC_000002.11:g.189915332C>T , CM000664.1:g.189915332C>T GRCh37
NC_000002.10:g.189623577C>T NCBI36
NG_011799.1:g.134274G>A
NG_011799.2:g.134274G>A
NG_011799.3:g.179696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3002G>A MANE Select ENSP00000364000.3:p.Arg1001His
ENST00000374866.7:c.3002G>A ENSP00000364000.3:p.Arg1001His
ENST00000618828.1:c.1841G>A ENSP00000482184.1:p.Arg614His
NM_000393.3:c.3002G>A NP_000384.2:p.Arg1001His
XM_011510573.1:c.2864G>A XP_011508875.1:p.Arg955His
NM_000393.4:c.3002G>A NP_000384.2:p.Arg1001His
XM_011510573.3:c.2864G>A XP_011508875.1:p.Arg955His
NM_000393.5:c.3002G>A MANE Select NP_000384.2:p.Arg1001His