Canonical Allele Identifier: CA6904209
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447450
ClinVar RCV Id: RCV000516262 RCV000664825 RCV002506252 RCV000710340 RCV001857902
dbSNP Id: rs773846324
ExAC: 13:20763044 A / C
gnomAD v2: 13-20763044-A-C
gnomAD v3: 13-20188905-A-C
gnomAD v4: 13-20188905-A-C
MyVariant Identifiers: chr13:g.20763044A>C (hg19) chr13:g.20188905A>C (hg38)
ERepo: CA6904209/MONDO:0019497/005
PubMed: PMID:17666888 PMID:25388846 PMID:27153395
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188905A>C , CM000675.2:g.20188905A>C GRCh38
NC_000013.10:g.20763044A>C , CM000675.1:g.20763044A>C GRCh37
NC_000013.9:g.19661044A>C NCBI36
NG_008358.1:g.9071T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.677T>G ENSP00000372295.1:p.Val226Gly
ENST00000382848.5:c.677T>G MANE Select ENSP00000372299.4:p.Val226Gly
ENST00000382844.1:c.677T>G ENSP00000372295.1:p.Val226Gly
ENST00000382848.4:c.677T>G ENSP00000372299.4:p.Val226Gly
NM_004004.5:c.677T>G NP_003995.2:p.Val226Gly
XM_011535049.1:c.677T>G XP_011533351.1:p.Val226Gly
XM_011535049.2:c.677T>G XP_011533351.1:p.Val226Gly
NM_004004.6:c.677T>G MANE Select NP_003995.2:p.Val226Gly
Search 100 bp 5'
Search 100 bp 3'