Canonical Allele Identifier: CA2077139441
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959058679
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189226_20189227del , CM000675.2:g.20189226_20189227del GRCh38
NC_000013.10:g.20763365_20763366del , CM000675.1:g.20763365_20763366del GRCh37
NC_000013.9:g.19661365_19661366del NCBI36
NG_008358.1:g.8750_8751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.356_357del ENSP00000372295.1:p.Glu119GlyfsTer?
ENST00000382848.5:c.356_357del MANE Select ENSP00000372299.4:p.Glu119GlyfsTer?
ENST00000382844.1:c.356_357del ENSP00000372295.1:p.Glu119GlyfsTer?
ENST00000382848.4:c.356_357del ENSP00000372299.4:p.Glu119GlyfsTer?
NM_004004.5:c.356_357del NP_003995.2:p.Glu119GlyfsTer?
XM_011535049.1:c.356_357del XP_011533351.1:p.Glu119GlyfsTer?
XM_011535049.2:c.356_357del XP_011533351.1:p.Glu119GlyfsTer?
NM_004004.6:c.356_357del MANE Select NP_003995.2:p.Glu119GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'