Canonical Allele Identifier: CA261643
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44736
ClinVar RCV Id: RCV000037835 RCV000211773 RCV000255698 RCV001004390 RCV002496601 RCV003313933
dbSNP Id: rs111033204
ExAC: 13:20763420 CAT / C
gnomAD v2: 13-20763420-CAT-C
gnomAD v3: 13-20189281-CAT-C
gnomAD v4: 13-20189281-CAT-C
MyVariant Identifiers: chr13:g.20763421_20763422del (hg19) chr13:g.20763421_20763422delAT (hg19) chr13:g.20189282_20189283del (hg38)
PubMed: PMID:10633133 PMID:10983956 PMID:11385713 PMID:11438992 PMID:12111646 PMID:16380907 PMID:19366456 PMID:20095872 PMID:22695344 PMID:22991996 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189282_20189283del , CM000675.2:g.20189282_20189283del GRCh38
NC_000013.10:g.20763421_20763422del , CM000675.1:g.20763421_20763422del GRCh37
NC_000013.9:g.19661421_19661422del NCBI36
NG_008358.1:g.8693_8694del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.299_300del ENSP00000372295.1:p.His100ArgfsTer14
ENST00000382848.5:c.299_300del MANE Select ENSP00000372299.4:p.His100ArgfsTer14
ENST00000382844.1:c.299_300del ENSP00000372295.1:p.His100ArgfsTer14
ENST00000382848.4:c.299_300del ENSP00000372299.4:p.His100ArgfsTer14
NM_004004.5:c.299_300del NP_003995.2:p.His100ArgfsTer14
XM_011535049.1:c.299_300del XP_011533351.1:p.His100ArgfsTer14
XM_011535049.2:c.299_300del XP_011533351.1:p.His100ArgfsTer14
NM_004004.6:c.299_300del MANE Select NP_003995.2:p.His100ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'