Canonical Allele Identifier: CA222247
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 94392
ClinVar RCV Id: RCV000169169 RCV000711350 RCV000678861 RCV000609278 RCV001375474
dbSNP Id: rs80338939
gnomAD v2: 13-20763685-A-AC
gnomAD v4: 13-20189546-A-AC
MyVariant Identifiers: chr13:g.20763686dup (hg19) chr13:g.20763686dupC (hg19) chr13:g.20763686_20763687insC (hg19) chr13:g.20763685_20763686insC (hg19) chr13:g.20189547dupC (hg38) chr13:g.20189546_20189547insC (hg38)
PubMed: PMID:9482292 PMID:11439000 PMID:16380907 PMID:18519481 PMID:19366456 PMID:20497192 PMID:20639189 PMID:22695344 PMID:23418865 PMID:23638949 PMID:23757202 PMID:24503448
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189552dup , CM000675.2:g.20189552dup GRCh38
NC_000013.10:g.20763691dup , CM000675.1:g.20763691dup GRCh37
NC_000013.9:g.19661691dup NCBI36
NG_008358.1:g.8429dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.35dup ENSP00000372295.1:p.Val13CysfsTer?
ENST00000382848.5:c.35dup MANE Select ENSP00000372299.4:p.Val13CysfsTer?
ENST00000382844.1:c.35dup ENSP00000372295.1:p.Val13CysfsTer?
ENST00000382848.4:c.35dup ENSP00000372299.4:p.Val13CysfsTer?
NM_004004.5:c.35dup NP_003995.2:p.Val13CysfsTer?
XM_011535049.1:c.35dup XP_011533351.1:p.Val13CysfsTer?
XM_011535049.2:c.35dup XP_011533351.1:p.Val13CysfsTer?
NM_004004.6:c.35dup MANE Select NP_003995.2:p.Val13CysfsTer?
Search 100 bp 5'
Search 100 bp 3'