Canonical Allele Identifier: CA172205
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17029
ClinVar RCV Id: RCV000018557 RCV000146002 RCV000211766 RCV000418755 RCV000678858 RCV000762908 RCV001004401 RCV001257033 RCV001291328 RCV001813995 RCV002288510 RCV003147300
dbSNP Id: rs80338940
gnomAD v2: 13-20766921-C-T
gnomAD v3: 13-20192782-C-T
gnomAD v4: 13-20192782-C-T
MyVariant Identifiers: chr13:g.20766921C>T (hg19) chr13:g.20192782C>T (hg38)
PubMed: PMID:10218527 PMID:10376574 PMID:11313763 PMID:11493200 PMID:11807148 PMID:11935342 PMID:12176036 PMID:12746422 PMID:14985372 PMID:15954104 PMID:16380907 PMID:16650079 PMID:16712961 PMID:16840571 PMID:17406097 PMID:17935238 PMID:19814620 PMID:20022641 PMID:20086291 PMID:20201936 PMID:20301449 PMID:21122151 PMID:21776002 PMID:22000900 PMID:22281373 PMID:22567369 PMID:23680645 PMID:24529908 PMID:24840842 PMID:25012701 PMID:25288386 PMID:25555641 PMID:26096904
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192782C>T , CM000675.2:g.20192782C>T GRCh38
NC_000013.10:g.20766921C>T , CM000675.1:g.20766921C>T GRCh37
NC_000013.9:g.19664921C>T NCBI36
NG_008358.1:g.5194G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+1G>A MANE Select ENSP00000372299.4:n.-23+1G>A
ENST00000382848.4:c.-23+1G>A ENSP00000372299.4:n.-23+1G>A
NM_004004.5:c.-23+1G>A NP_003995.2:n.-23+1G>A
NM_004004.6:c.-23+1G>A MANE Select NP_003995.2:n.-23+1G>A
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