Canonical Allele Identifier: CA172218
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17032
ClinVar RCV Id: RCV000018560 RCV000211770 RCV000146012 RCV001041795 RCV002504805 RCV001257042 RCV003335046
dbSNP Id: rs104894409
ExAC: 13:20763471 C / G
gnomAD v2: 13-20763471-C-G
gnomAD v4: 13-20189332-C-G
MyVariant Identifiers: chr13:g.20763471C>G (hg19) chr13:g.20189332C>G (hg38)
PubMed: PMID:9529365 PMID:11556849 PMID:12505163 PMID:12562518 PMID:14985372 PMID:15365987 PMID:15592461 PMID:16217030 PMID:16380907 PMID:17426645 PMID:20441744 PMID:23555729 PMID:24158611
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189332C>G , CM000675.2:g.20189332C>G GRCh38
NC_000013.10:g.20763471C>G , CM000675.1:g.20763471C>G GRCh37
NC_000013.9:g.19661471C>G NCBI36
NG_008358.1:g.8644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.250G>C ENSP00000372295.1:p.Val84Leu
ENST00000382848.5:c.250G>C MANE Select ENSP00000372299.4:p.Val84Leu
ENST00000382844.1:c.250G>C ENSP00000372295.1:p.Val84Leu
ENST00000382848.4:c.250G>C ENSP00000372299.4:p.Val84Leu
NM_004004.5:c.250G>C NP_003995.2:p.Val84Leu
XM_011535049.1:c.250G>C XP_011533351.1:p.Val84Leu
XM_011535049.2:c.250G>C XP_011533351.1:p.Val84Leu
NM_004004.6:c.250G>C MANE Select NP_003995.2:p.Val84Leu
Search 100 bp 5'
Search 100 bp 3'