Canonical Allele Identifier: CA134957
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44733
ClinVar RCV Id: RCV000037832 RCV000523752 RCV000675160 RCV002482993 RCV002228124
dbSNP Id: rs397516871
ExAC: 13:20763442 C / T
gnomAD v2: 13-20763442-C-T
gnomAD v3: 13-20189303-C-T
gnomAD v4: 13-20189303-C-T
MyVariant Identifiers: chr13:g.20763442C>T (hg19) chr13:g.20189303C>T (hg38)
PubMed: PMID:12172394 PMID:14985372 PMID:15666300 PMID:16380907 PMID:17666888 PMID:18776652 PMID:20497192 PMID:20668687 PMID:22592158 PMID:24156272 PMID:25388846 PMID:25447126 PMID:26399936
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189303C>T , CM000675.2:g.20189303C>T GRCh38
NC_000013.10:g.20763442C>T , CM000675.1:g.20763442C>T GRCh37
NC_000013.9:g.19661442C>T NCBI36
NG_008358.1:g.8673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.279G>A ENSP00000372295.1:p.Met93Ile
ENST00000382848.5:c.279G>A MANE Select ENSP00000372299.4:p.Met93Ile
ENST00000382844.1:c.279G>A ENSP00000372295.1:p.Met93Ile
ENST00000382848.4:c.279G>A ENSP00000372299.4:p.Met93Ile
NM_004004.5:c.279G>A NP_003995.2:p.Met93Ile
XM_011535049.1:c.279G>A XP_011533351.1:p.Met93Ile
XM_011535049.2:c.279G>A XP_011533351.1:p.Met93Ile
NM_004004.6:c.279G>A MANE Select NP_003995.2:p.Met93Ile
Search 100 bp 5'
Search 100 bp 3'