Canonical Allele Identifier: CA6904208
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2793174
ClinVar RCV Id: RCV003670097
dbSNP Id: rs768407446
ExAC: 13:20763041 T / C
gnomAD v2: 13-20763041-T-C
gnomAD v4: 13-20188902-T-C
MyVariant Identifiers: chr13:g.20763041T>C (hg19) chr13:g.20188902T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188902T>C , CM000675.2:g.20188902T>C GRCh38
NC_000013.10:g.20763041T>C , CM000675.1:g.20763041T>C GRCh37
NC_000013.9:g.19661041T>C NCBI36
NG_008358.1:g.9074A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.680A>G ENSP00000372295.1:p.Ter227=
ENST00000382848.5:c.680A>G MANE Select ENSP00000372299.4:p.Ter227=
ENST00000382844.1:c.680A>G ENSP00000372295.1:p.Ter227=
ENST00000382848.4:c.680A>G ENSP00000372299.4:p.Ter227=
NM_004004.5:c.680A>G NP_003995.2:p.Ter227=
XM_011535049.1:c.680A>G XP_011533351.1:p.Ter227=
XM_011535049.2:c.680A>G XP_011533351.1:p.Ter227=
NM_004004.6:c.680A>G MANE Select NP_003995.2:p.Ter227=
Search 100 bp 5'
Search 100 bp 3'