Canonical Allele Identifier: CA6904279
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1328920
ClinVar RCV Id: RCV001797552
dbSNP Id: rs201855069
ExAC: 13:20763381 C / T
gnomAD v2: 13-20763381-C-T
gnomAD v3: 13-20189242-C-T
gnomAD v4: 13-20189242-C-T
MyVariant Identifiers: chr13:g.20763381C>T (hg19) chr13:g.20189242C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189242C>T , CM000675.2:g.20189242C>T GRCh38
NC_000013.10:g.20763381C>T , CM000675.1:g.20763381C>T GRCh37
NC_000013.9:g.19661381C>T NCBI36
NG_008358.1:g.8734G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.340G>A ENSP00000372295.1:p.Glu114Lys
ENST00000382848.5:c.340G>A MANE Select ENSP00000372299.4:p.Glu114Lys
ENST00000382844.1:c.340G>A ENSP00000372295.1:p.Glu114Lys
ENST00000382848.4:c.340G>A ENSP00000372299.4:p.Glu114Lys
NM_004004.5:c.340G>A NP_003995.2:p.Glu114Lys
XM_011535049.1:c.340G>A XP_011533351.1:p.Glu114Lys
XM_011535049.2:c.340G>A XP_011533351.1:p.Glu114Lys
NM_004004.6:c.340G>A MANE Select NP_003995.2:p.Glu114Lys
Search 100 bp 5'
Search 100 bp 3'