Canonical Allele Identifier: CA127033
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17033
ClinVar RCV Id: RCV000022510 RCV000018561 RCV001851914
dbSNP Id: rs72561723
gnomAD v2: 13-20763587-C-T
gnomAD v3: 13-20189448-C-T
gnomAD v4: 13-20189448-C-T
MyVariant Identifiers: chr13:g.20763587C>T (hg19) chr13:g.20189448C>T (hg38)
PubMed: PMID:10501520 PMID:10633133 PMID:12560944 PMID:15633193 PMID:16950989 PMID:17146396 PMID:17428836 PMID:20412116 PMID:21292415 PMID:22031297 PMID:24785414
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189448C>T , CM000675.2:g.20189448C>T GRCh38
NC_000013.10:g.20763587C>T , CM000675.1:g.20763587C>T GRCh37
NC_000013.9:g.19661587C>T NCBI36
NG_008358.1:g.8528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.134G>A ENSP00000372295.1:p.Gly45Glu
ENST00000382848.5:c.134G>A MANE Select ENSP00000372299.4:p.Gly45Glu
ENST00000382844.1:c.134G>A ENSP00000372295.1:p.Gly45Glu
ENST00000382848.4:c.134G>A ENSP00000372299.4:p.Gly45Glu
NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu
XM_011535049.1:c.134G>A XP_011533351.1:p.Gly45Glu
XM_011535049.2:c.134G>A XP_011533351.1:p.Gly45Glu
NM_004004.6:c.134G>A MANE Select NP_003995.2:p.Gly45Glu
Search 100 bp 5'
Search 100 bp 3'