Canonical Allele Identifier: CA134979
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44756
ClinVar RCV Id: RCV000037859 RCV000505507 RCV000590717 RCV001257049
dbSNP Id: rs200104362
ExAC: 13:20763218 T / C
gnomAD v2: 13-20763218-T-C
gnomAD v3: 13-20189079-T-C
gnomAD v4: 13-20189079-T-C
MyVariant Identifiers: chr13:g.20763218T>C (hg19) chr13:g.20189079T>C (hg38)
PubMed: PMID:17357124 PMID:17567889 PMID:19081147 PMID:19125024 PMID:19230829 PMID:19283857 PMID:20022641 PMID:20381175 PMID:20497192 PMID:20542681 PMID:21728791 PMID:23684175 PMID:24156272 PMID:24158611 PMID:25188385
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189079T>C , CM000675.2:g.20189079T>C GRCh38
NC_000013.10:g.20763218T>C , CM000675.1:g.20763218T>C GRCh37
NC_000013.9:g.19661218T>C NCBI36
NG_008358.1:g.8897A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.503A>G ENSP00000372295.1:p.Lys168Arg
ENST00000382848.5:c.503A>G MANE Select ENSP00000372299.4:p.Lys168Arg
ENST00000382844.1:c.503A>G ENSP00000372295.1:p.Lys168Arg
ENST00000382848.4:c.503A>G ENSP00000372299.4:p.Lys168Arg
NM_004004.5:c.503A>G NP_003995.2:p.Lys168Arg
XM_011535049.1:c.503A>G XP_011533351.1:p.Lys168Arg
XM_011535049.2:c.503A>G XP_011533351.1:p.Lys168Arg
NM_004004.6:c.503A>G MANE Select NP_003995.2:p.Lys168Arg
Search 100 bp 5'
Search 100 bp 3'