Canonical Allele Identifier: CA2580086790
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137457
ClinVar RCV Id: RCV003041179
gnomAD v4: 13-20189253-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189258del , CM000675.2:g.20189258del GRCh38
NC_000013.10:g.20763397del , CM000675.1:g.20763397del GRCh37
NC_000013.9:g.19661397del NCBI36
NG_008358.1:g.8722del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.328del ENSP00000372295.1:p.Glu110ArgfsTer2
ENST00000382848.5:c.328del MANE Select ENSP00000372299.4:p.Glu110ArgfsTer2
ENST00000382844.1:c.328del ENSP00000372295.1:p.Glu110ArgfsTer2
ENST00000382848.4:c.328del ENSP00000372299.4:p.Glu110ArgfsTer2
NM_004004.5:c.328del NP_003995.2:p.Glu110ArgfsTer2
XM_011535049.1:c.328del XP_011533351.1:p.Glu110ArgfsTer2
XM_011535049.2:c.328del XP_011533351.1:p.Glu110ArgfsTer2
NM_004004.6:c.328del MANE Select NP_003995.2:p.Glu110ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'