Canonical Allele Identifier: CA184190
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 179318
ClinVar RCV Id: RCV000156107 RCV002516147
dbSNP Id: rs727504789
ExAC: 13:20763251 A / G
gnomAD v2: 13-20763251-A-G
gnomAD v4: 13-20189112-A-G
MyVariant Identifiers: chr13:g.20763251A>G (hg19) chr13:g.20189112A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189112A>G , CM000675.2:g.20189112A>G GRCh38
NC_000013.10:g.20763251A>G , CM000675.1:g.20763251A>G GRCh37
NC_000013.9:g.19661251A>G NCBI36
NG_008358.1:g.8864T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.470T>C ENSP00000372295.1:p.Met157Thr
ENST00000382848.5:c.470T>C MANE Select ENSP00000372299.4:p.Met157Thr
ENST00000382844.1:c.470T>C ENSP00000372295.1:p.Met157Thr
ENST00000382848.4:c.470T>C ENSP00000372299.4:p.Met157Thr
NM_004004.5:c.470T>C NP_003995.2:p.Met157Thr
XM_011535049.1:c.470T>C XP_011533351.1:p.Met157Thr
XM_011535049.2:c.470T>C XP_011533351.1:p.Met157Thr
NM_004004.6:c.470T>C MANE Select NP_003995.2:p.Met157Thr
Search 100 bp 5'
Search 100 bp 3'