Canonical Allele Identifier: CA349862699
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2757615
ClinVar RCV Id: RCV003593841

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045877G>C , CM000664.2:g.189045877G>C GRCh38
NC_000002.11:g.189910603G>C , CM000664.1:g.189910603G>C GRCh37
NC_000002.10:g.189618848G>C NCBI36
NG_011799.1:g.139003C>G
NG_011799.2:g.139003C>G
NG_011799.3:g.184425C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3232C>G MANE Select ENSP00000364000.3:p.Leu1078Val
ENST00000374866.7:c.3232C>G ENSP00000364000.3:p.Leu1078Val
ENST00000618828.1:c.2071C>G ENSP00000482184.1:p.Leu691Val
NM_000393.3:c.3232C>G NP_000384.2:p.Leu1078Val
XM_011510573.1:c.3094C>G XP_011508875.1:p.Leu1032Val
NM_000393.4:c.3232C>G NP_000384.2:p.Leu1078Val
XM_011510573.3:c.3094C>G XP_011508875.1:p.Leu1032Val
NM_000393.5:c.3232C>G MANE Select NP_000384.2:p.Leu1078Val