Canonical Allele Identifier: CA134995
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44765
ClinVar RCV Id: RCV000037870 RCV000666342 RCV000710115 RCV000763879
dbSNP Id: rs111033194
ExAC: 13:20763051 T / G
gnomAD v2: 13-20763051-T-G
gnomAD v3: 13-20188912-T-G
gnomAD v4: 13-20188912-T-G
MyVariant Identifiers: chr13:g.20763051T>G (hg19) chr13:g.20188912T>G (hg38)
PubMed: PMID:10874298 PMID:12172392 PMID:12865758 PMID:16125251 PMID:17357124 PMID:17444514 PMID:19081147 PMID:20059378 PMID:20381175 PMID:21844220 PMID:22567369 PMID:25262649 PMID:25388846 PMID:26542351
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188912T>G , CM000675.2:g.20188912T>G GRCh38
NC_000013.10:g.20763051T>G , CM000675.1:g.20763051T>G GRCh37
NC_000013.9:g.19661051T>G NCBI36
NG_008358.1:g.9064A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.670A>C ENSP00000372295.1:p.Lys224Gln
ENST00000382848.5:c.670A>C MANE Select ENSP00000372299.4:p.Lys224Gln
ENST00000382844.1:c.670A>C ENSP00000372295.1:p.Lys224Gln
ENST00000382848.4:c.670A>C ENSP00000372299.4:p.Lys224Gln
NM_004004.5:c.670A>C NP_003995.2:p.Lys224Gln
XM_011535049.1:c.670A>C XP_011533351.1:p.Lys224Gln
XM_011535049.2:c.670A>C XP_011533351.1:p.Lys224Gln
NM_004004.6:c.670A>C MANE Select NP_003995.2:p.Lys224Gln
Search 100 bp 5'
Search 100 bp 3'