Canonical Allele Identifier: CA127030
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17027
ClinVar RCV Id: RCV000018554 RCV000018555 RCV000210858 RCV000211764 RCV000254728 RCV001257038 RCV001291331
dbSNP Id: rs28931593
gnomAD v3: 13-20189358-C-T
gnomAD v4: 13-20189358-C-T
MyVariant Identifiers: chr13:g.20763497C>T (hg19) chr13:g.20189358C>T (hg38)
PubMed: PMID:12372058 PMID:15790391 PMID:15996214 PMID:16059934 PMID:20096356 PMID:20301708 PMID:21040787 PMID:23451214
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189358C>T , CM000675.2:g.20189358C>T GRCh38
NC_000013.10:g.20763497C>T , CM000675.1:g.20763497C>T GRCh37
NC_000013.9:g.19661497C>T NCBI36
NG_008358.1:g.8618G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.224G>A ENSP00000372295.1:p.Arg75Gln
ENST00000382848.5:c.224G>A MANE Select ENSP00000372299.4:p.Arg75Gln
ENST00000382844.1:c.224G>A ENSP00000372295.1:p.Arg75Gln
ENST00000382848.4:c.224G>A ENSP00000372299.4:p.Arg75Gln
NM_004004.5:c.224G>A NP_003995.2:p.Arg75Gln
XM_011535049.1:c.224G>A XP_011533351.1:p.Arg75Gln
XM_011535049.2:c.224G>A XP_011533351.1:p.Arg75Gln
NM_004004.6:c.224G>A MANE Select NP_003995.2:p.Arg75Gln
Search 100 bp 5'
Search 100 bp 3'