Canonical Allele Identifier: CA134989
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44760
ClinVar RCV Id: RCV000037865 RCV000678891 RCV000674539 RCV001002772 RCV001555873 RCV002477097
dbSNP Id: rs397516878
ExAC: 13:20763150 A / G
gnomAD v2: 13-20763150-A-G
gnomAD v3: 13-20189011-A-G
gnomAD v4: 13-20189011-A-G
MyVariant Identifiers: chr13:g.20763150A>G (hg19) chr13:g.20189011A>G (hg38)
ERepo: CA134989/MONDO:0019497/005
PubMed: PMID:12560944 PMID:12792423 PMID:15479191 PMID:15790391 PMID:16840571 PMID:19043807 PMID:19366456 PMID:23826813 PMID:23967136 PMID:24256046 PMID:25388846 PMID:25808784
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189011A>G , CM000675.2:g.20189011A>G GRCh38
NC_000013.10:g.20763150A>G , CM000675.1:g.20763150A>G GRCh37
NC_000013.9:g.19661150A>G NCBI36
NG_008358.1:g.8965T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.571T>C ENSP00000372295.1:p.Phe191Leu
ENST00000382848.5:c.571T>C MANE Select ENSP00000372299.4:p.Phe191Leu
ENST00000382844.1:c.571T>C ENSP00000372295.1:p.Phe191Leu
ENST00000382848.4:c.571T>C ENSP00000372299.4:p.Phe191Leu
NM_004004.5:c.571T>C NP_003995.2:p.Phe191Leu
XM_011535049.1:c.571T>C XP_011533351.1:p.Phe191Leu
XM_011535049.2:c.571T>C XP_011533351.1:p.Phe191Leu
NM_004004.6:c.571T>C MANE Select NP_003995.2:p.Phe191Leu
Search 100 bp 5'
Search 100 bp 3'