Canonical Allele Identifier: CA645372924
Gene: GJB2 HGNC NCBI

Linked Data

PubMed: PMID:12560944 PMID:15633193 PMID:20497192 PMID:24785414
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.[20189174G>T;20189448C>T] , CM000675.2:g.[20189174G>T;20189448C>T] GRCh38
NC_000013.10:g.[20763313G>T;20763587C>T] , CM000675.1:g.[20763313G>T;20763587C>T] GRCh37
NC_000013.9:g.[19661313G>T;19661587C>T] NCBI36
NG_008358.1:g.[8528G>A;8802C>A]

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.[134G>A;408C>A] ENSP00000372295.1:p.[Gly45Glu;Tyr136Ter]
ENST00000382848.5:c.[134G>A;408C>A] MANE Select ENSP00000372299.4:p.[Gly45Glu;Tyr136Ter]
ENST00000382844.1:c.[134G>A;408C>A] ENSP00000372295.1:p.[Gly45Glu;Tyr136Ter]
ENST00000382848.4:c.[134G>A;408C>A] ENSP00000372299.4:p.[Gly45Glu;Tyr136Ter]
NM_004004.5:c.[134G>A;408C>A] NP_003995.2:p.[Gly45Glu;Tyr136Ter]
XM_011535049.1:c.[134G>A;408C>A] XP_011533351.1:p.[Gly45Glu;Tyr136Ter]
XM_011535049.2:c.[134G>A;408C>A] XP_011533351.1:p.[Gly45Glu;Tyr136Ter]
NM_004004.6:c.[134G>A;408C>A] MANE Select NP_003995.2:p.[Gly45Glu;Tyr136Ter]
Search 100 bp 5'
Search 100 bp 3'