Canonical Allele Identifier: CA261641
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44728
ClinVar RCV Id: RCV000037820 RCV000211718 RCV000624822 RCV001389832
dbSNP Id: rs111033451
gnomAD v2: 13-20763702-G-A
gnomAD v4: 13-20189563-G-A
MyVariant Identifiers: chr13:g.20763702G>A (hg19) chr13:g.20189563G>A (hg38)
PubMed: PMID:10369869 PMID:10633135 PMID:10807696 PMID:11493200 PMID:11918723 PMID:12072059 PMID:12865758 PMID:15040442 PMID:15365987 PMID:15482471 PMID:18804553 PMID:21465647 PMID:25085072 PMID:25937001 PMID:26940866
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189563G>A , CM000675.2:g.20189563G>A GRCh38
NC_000013.10:g.20763702G>A , CM000675.1:g.20763702G>A GRCh37
NC_000013.9:g.19661702G>A NCBI36
NG_008358.1:g.8413C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.19C>T ENSP00000372295.1:p.Gln7Ter
ENST00000382848.5:c.19C>T MANE Select ENSP00000372299.4:p.Gln7Ter
ENST00000382844.1:c.19C>T ENSP00000372295.1:p.Gln7Ter
ENST00000382848.4:c.19C>T ENSP00000372299.4:p.Gln7Ter
NM_004004.5:c.19C>T NP_003995.2:p.Gln7Ter
XM_011535049.1:c.19C>T XP_011533351.1:p.Gln7Ter
XM_011535049.2:c.19C>T XP_011533351.1:p.Gln7Ter
NM_004004.6:c.19C>T MANE Select NP_003995.2:p.Gln7Ter
Search 100 bp 5'
Search 100 bp 3'