Canonical Allele Identifier: CA172217
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17010
ClinVar RCV Id: RCV000018534 RCV000146010 RCV000211757 RCV000255988 RCV000291910 RCV000307189 RCV000346888 RCV000392353 RCV000392361 RCV000409300 RCV000477920 RCV000678869 RCV000844699 RCV001004395 RCV002227040 RCV002470713 RCV002504803 RCV002513103
dbSNP Id: rs80338942
ExAC: 13:20763553 CA / C
gnomAD v2: 13-20763553-CA-C
gnomAD v3: 13-20189414-CA-C
gnomAD v4: 13-20189414-CA-C
MyVariant Identifiers: chr13:g.20763554del (hg19) chr13:g.20763554delA (hg19) chr13:g.20189415del (hg38)
ERepo: CA172217/MONDO:0019497/005
PubMed: PMID:9285800 PMID:9819448 PMID:10508996 PMID:10903123 PMID:10982182 PMID:11074495 PMID:11386851 PMID:11668644 PMID:11935342 PMID:15547683 PMID:15967879 PMID:16380907 PMID:17666888 PMID:19125024 PMID:20301449 PMID:20739944 PMID:22785241 PMID:23891399 PMID:24529908 PMID:26096904 PMID:26236732
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189415del , CM000675.2:g.20189415del GRCh38
NC_000013.10:g.20763554del , CM000675.1:g.20763554del GRCh37
NC_000013.9:g.19661554del NCBI36
NG_008358.1:g.8561del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.167del ENSP00000372295.1:p.Leu56ArgfsTer26
ENST00000382848.5:c.167del MANE Select ENSP00000372299.4:p.Leu56ArgfsTer26
ENST00000382844.1:c.167del ENSP00000372295.1:p.Leu56ArgfsTer26
ENST00000382848.4:c.167del ENSP00000372299.4:p.Leu56ArgfsTer26
NM_004004.5:c.167del NP_003995.2:p.Leu56ArgfsTer26
XM_011535049.1:c.167del XP_011533351.1:p.Leu56ArgfsTer26
XM_011535049.2:c.167del XP_011533351.1:p.Leu56ArgfsTer26
NM_004004.6:c.167del MANE Select NP_003995.2:p.Leu56ArgfsTer26
Search 100 bp 5'
Search 100 bp 3'