Canonical Allele Identifier: CA222243
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 94390
ClinVar RCV Id: RCV000080363 RCV000664584
dbSNP Id: rs398123813
ExAC: 13:20763727 C / T
gnomAD v2: 13-20763727-C-T
gnomAD v3: 13-20189588-C-T
gnomAD v4: 13-20189588-C-T
MyVariant Identifiers: chr13:g.20763727C>T (hg19) chr13:g.20189588C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189588C>T , CM000675.2:g.20189588C>T GRCh38
NC_000013.10:g.20763727C>T , CM000675.1:g.20763727C>T GRCh37
NC_000013.9:g.19661727C>T NCBI36
NG_008358.1:g.8388G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.-7G>A ENSP00000372295.1:n.-7G>A
ENST00000382848.5:c.-7G>A MANE Select ENSP00000372299.4:n.-7G>A
ENST00000382844.1:c.-7G>A ENSP00000372295.1:n.-7G>A
ENST00000382848.4:c.-7G>A ENSP00000372299.4:n.-7G>A
NM_004004.5:c.-7G>A NP_003995.2:n.-7G>A
XM_011535049.1:c.-7G>A XP_011533351.1:n.-7G>A
XM_011535049.2:c.-7G>A XP_011533351.1:n.-7G>A
NM_004004.6:c.-7G>A MANE Select NP_003995.2:n.-7G>A
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