Canonical Allele Identifier: CA198806
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44729
ClinVar RCV Id: RCV000037821 RCV000211762 RCV000724654 RCV000762907 RCV003990963
dbSNP Id: rs111033293
ExAC: 13:20763720 T / C
gnomAD v2: 13-20763720-T-C
gnomAD v3: 13-20189581-T-C
gnomAD v4: 13-20189581-T-C
MyVariant Identifiers: chr13:g.20763720T>C (hg19) chr13:g.20189581T>C (hg38)
PubMed: PMID:9482292 PMID:9710598 PMID:10218527 PMID:12189493 PMID:12910486 PMID:15488970 PMID:16380907 PMID:16532460 PMID:16950989 PMID:18941476 PMID:18983339 PMID:20146813 PMID:23555729 PMID:23695287 PMID:23891399
ERepo: CA198806/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189581T>C , CM000675.2:g.20189581T>C GRCh38
NC_000013.10:g.20763720T>C , CM000675.1:g.20763720T>C GRCh37
NC_000013.9:g.19661720T>C NCBI36
NG_008358.1:g.8395A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.1A>G ENSP00000372295.1:p.Met1Val
ENST00000382848.5:c.1A>G MANE Select ENSP00000372299.4:p.Met1Val
ENST00000382844.1:c.1A>G ENSP00000372295.1:p.Met1Val
ENST00000382848.4:c.1A>G ENSP00000372299.4:p.Met1Val
NM_004004.5:c.1A>G NP_003995.2:p.Met1Val
XM_011535049.1:c.1A>G XP_011533351.1:p.Met1Val
XM_011535049.2:c.1A>G XP_011533351.1:p.Met1Val
NM_004004.6:c.1A>G MANE Select NP_003995.2:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'