Canonical Allele Identifier: CA2662317779
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189050658-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050659del , CM000664.2:g.189050659del GRCh38
NC_000002.11:g.189915385del , CM000664.1:g.189915385del GRCh37
NC_000002.10:g.189623630del NCBI36
NG_011799.1:g.134221del
NG_011799.2:g.134221del
NG_011799.3:g.179643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2949del MANE Select ENSP00000364000.3:p.Gly984ValfsTer?
ENST00000374866.7:c.2949del ENSP00000364000.3:p.Gly984ValfsTer?
ENST00000618828.1:c.1788del ENSP00000482184.1:p.Gly597ValfsTer?
NM_000393.3:c.2949del NP_000384.2:p.Gly984ValfsTer?
XM_011510573.1:c.2811del XP_011508875.1:p.Gly938ValfsTer?
NM_000393.4:c.2949del NP_000384.2:p.Gly984ValfsTer?
XM_011510573.3:c.2811del XP_011508875.1:p.Gly938ValfsTer?
NM_000393.5:c.2949del MANE Select NP_000384.2:p.Gly984ValfsTer?
Search 100 bp 5'
Search 100 bp 3'