Canonical Allele Identifier: CA483154042
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1549555
ClinVar RCV Id: RCV002182766
dbSNP Id: rs2137308870
gnomAD v4: 13-20189546-A-C
MyVariant Identifiers: chr13:g.20763685A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189546A>C , CM000675.2:g.20189546A>C GRCh38
NC_000013.10:g.20763685A>C , CM000675.1:g.20763685A>C GRCh37
NC_000013.9:g.19661685A>C NCBI36
NG_008358.1:g.8430T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.36T>G ENSP00000372295.1:p.Gly12=
ENST00000382848.5:c.36T>G MANE Select ENSP00000372299.4:p.Gly12=
ENST00000382844.1:c.36T>G ENSP00000372295.1:p.Gly12=
ENST00000382848.4:c.36T>G ENSP00000372299.4:p.Gly12=
NM_004004.5:c.36T>G NP_003995.2:p.Gly12=
XM_011535049.1:c.36T>G XP_011533351.1:p.Gly12=
XM_011535049.2:c.36T>G XP_011533351.1:p.Gly12=
NM_004004.6:c.36T>G MANE Select NP_003995.2:p.Gly12=
Search 100 bp 5'
Search 100 bp 3'