Canonical Allele Identifier: CA134970
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44747
ClinVar RCV Id: RCV000037849 RCV000730888 RCV001089545 RCV001257047
dbSNP Id: rs397516875
ExAC: 13:20763336 C / T
gnomAD v2: 13-20763336-C-T
gnomAD v3: 13-20189197-C-T
gnomAD v4: 13-20189197-C-T
COSMIC: COSM3885077
MyVariant Identifiers: chr13:g.20763336C>T (hg19) chr13:g.20189197C>T (hg38)
PubMed: PMID:11556849 PMID:15666300 PMID:15964725 PMID:17666888 PMID:19371219
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189197C>T , CM000675.2:g.20189197C>T GRCh38
NC_000013.10:g.20763336C>T , CM000675.1:g.20763336C>T GRCh37
NC_000013.9:g.19661336C>T NCBI36
NG_008358.1:g.8779G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.385G>A ENSP00000372295.1:p.Glu129Lys
ENST00000382848.5:c.385G>A MANE Select ENSP00000372299.4:p.Glu129Lys
ENST00000382844.1:c.385G>A ENSP00000372295.1:p.Glu129Lys
ENST00000382848.4:c.385G>A ENSP00000372299.4:p.Glu129Lys
NM_004004.5:c.385G>A NP_003995.2:p.Glu129Lys
XM_011535049.1:c.385G>A XP_011533351.1:p.Glu129Lys
XM_011535049.2:c.385G>A XP_011533351.1:p.Glu129Lys
NM_004004.6:c.385G>A MANE Select NP_003995.2:p.Glu129Lys
Search 100 bp 5'
Search 100 bp 3'