Canonical Allele Identifier: CA2662317021
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189043238-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043240del , CM000664.2:g.189043240del GRCh38
NC_000002.11:g.189907966del , CM000664.1:g.189907966del GRCh37
NC_000002.10:g.189616211del NCBI36
NG_011799.1:g.141641del
NG_011799.2:g.141641del
NG_011799.3:g.187063del

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3383del MANE Select ENSP00000364000.3:p.Gly1128ValfsTer?
ENST00000374866.7:c.3383del ENSP00000364000.3:p.Gly1128ValfsTer?
ENST00000618828.1:c.2222del ENSP00000482184.1:p.Gly741ValfsTer?
NM_000393.3:c.3383del NP_000384.2:p.Gly1128ValfsTer?
XM_011510573.1:c.3245del XP_011508875.1:p.Gly1082ValfsTer?
NM_000393.4:c.3383del NP_000384.2:p.Gly1128ValfsTer?
XM_011510573.3:c.3245del XP_011508875.1:p.Gly1082ValfsTer?
NM_000393.5:c.3383del MANE Select NP_000384.2:p.Gly1128ValfsTer?
Search 100 bp 5'
Search 100 bp 3'