Canonical Allele Identifier: CA16617397
Gene: COL5A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 423881
ClinVar RCV Id: RCV000483758
dbSNP Id: rs1040238147

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050640C>T , CM000664.2:g.189050640C>T GRCh38
NC_000002.11:g.189915366C>T , CM000664.1:g.189915366C>T GRCh37
NC_000002.10:g.189623611C>T NCBI36
NG_011799.1:g.134240G>A
NG_011799.2:g.134240G>A

Transcript Alleles

HGVS Amino-acid change
NM_000393.3:c.2968G>A VV NP_000384.2:p.Gly990Arg
XM_011510573.1:c.2830G>A XP_011508875.1:p.Gly944Arg
NM_000393.4:c.2968G>A VV NP_000384.2:p.Gly990Arg
XM_011510573.3:c.2830G>A XP_011508875.1:p.Gly944Arg
NM_000393.5:c.2968G>A VV MANE Preferred NP_000384.2:p.Gly990Arg
ENST00000374866.7:c.2968G>A ENSP00000364000.3:p.Gly990Arg
ENST00000618828.1:c.1807G>A ENSP00000482184.1:p.Gly603Arg