Canonical Allele Identifier: CA274346
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 189070
ClinVar RCV Id: RCV000169473 RCV000498375 RCV001814083 RCV004539571 RCV002492693 RCV004017450
dbSNP Id: rs773528125
ExAC: 13:20763209 G / GCGTT
gnomAD v2: 13-20763209-G-GCGTT
gnomAD v3: 13-20189070-G-GCGTT
gnomAD v4: 13-20189070-G-GCGTT
MyVariant Identifiers: chr13:g.20763210_20763213dupCGTT (hg19) chr13:g.20763209_20763210insCGTT (hg19) chr13:g.20189071_20189074dupCGTT (hg38) chr13:g.20189070_20189071insCGTT (hg38)
PubMed: PMID:12172394 PMID:23638949 PMID:24256046 PMID:24737404 PMID:25891447 PMID:26061264
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189071_20189074dup , CM000675.2:g.20189071_20189074dup GRCh38
NC_000013.10:g.20763210_20763213dup , CM000675.1:g.20763210_20763213dup GRCh37
NC_000013.9:g.19661210_19661213dup NCBI36
NG_008358.1:g.8902_8905dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.508_511dup ENSP00000372295.1:p.Ala171GlufsTer?
ENST00000382848.5:c.508_511dup MANE Select ENSP00000372299.4:p.Ala171GlufsTer?
ENST00000382844.1:c.508_511dup ENSP00000372295.1:p.Ala171GlufsTer?
ENST00000382848.4:c.508_511dup ENSP00000372299.4:p.Ala171GlufsTer?
NM_004004.5:c.508_511dup NP_003995.2:p.Ala171GlufsTer?
XM_011535049.1:c.508_511dup XP_011533351.1:p.Ala171GlufsTer?
XM_011535049.2:c.508_511dup XP_011533351.1:p.Ala171GlufsTer?
NM_004004.6:c.508_511dup MANE Select NP_003995.2:p.Ala171GlufsTer?
Search 100 bp 5'
Search 100 bp 3'