Canonical Allele Identifier: CA184094
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 179274
ClinVar RCV Id: RCV000156063 RCV002056110
dbSNP Id: rs727504755
gnomAD v2: 13-20763502-G-A
gnomAD v4: 13-20189363-G-A
MyVariant Identifiers: chr13:g.20763502G>A (hg19) chr13:g.20189363G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189363G>A , CM000675.2:g.20189363G>A GRCh38
NC_000013.10:g.20763502G>A , CM000675.1:g.20763502G>A GRCh37
NC_000013.9:g.19661502G>A NCBI36
NG_008358.1:g.8613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.219C>T ENSP00000372295.1:p.His73=
ENST00000382848.5:c.219C>T MANE Select ENSP00000372299.4:p.His73=
ENST00000382844.1:c.219C>T ENSP00000372295.1:p.His73=
ENST00000382848.4:c.219C>T ENSP00000372299.4:p.His73=
NM_004004.5:c.219C>T NP_003995.2:p.His73=
XM_011535049.1:c.219C>T XP_011533351.1:p.His73=
XM_011535049.2:c.219C>T XP_011533351.1:p.His73=
NM_004004.6:c.219C>T MANE Select NP_003995.2:p.His73=
Search 100 bp 5'
Search 100 bp 3'