Canonical Allele Identifier: CA134953
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44731
ClinVar RCV Id: RCV000037824 RCV001836634 RCV001252671 RCV001852792
dbSNP Id: rs111033361
ExAC: 13:20763494 A / G
gnomAD v2: 13-20763494-A-G
gnomAD v3: 13-20189355-A-G
gnomAD v4: 13-20189355-A-G
MyVariant Identifiers: chr13:g.20763494A>G (hg19) chr13:g.20189355A>G (hg38)
PubMed: PMID:17666888 PMID:19274344
ERepo: CA134953/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189355A>G , CM000675.2:g.20189355A>G GRCh38
NC_000013.10:g.20763494A>G , CM000675.1:g.20763494A>G GRCh37
NC_000013.9:g.19661494A>G NCBI36
NG_008358.1:g.8621T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.227T>C ENSP00000372295.1:p.Leu76Pro
ENST00000382848.5:c.227T>C MANE Select ENSP00000372299.4:p.Leu76Pro
ENST00000382844.1:c.227T>C ENSP00000372295.1:p.Leu76Pro
ENST00000382848.4:c.227T>C ENSP00000372299.4:p.Leu76Pro
NM_004004.5:c.227T>C NP_003995.2:p.Leu76Pro
XM_011535049.1:c.227T>C XP_011533351.1:p.Leu76Pro
XM_011535049.2:c.227T>C XP_011533351.1:p.Leu76Pro
NM_004004.6:c.227T>C MANE Select NP_003995.2:p.Leu76Pro
Search 100 bp 5'
Search 100 bp 3'