Canonical Allele Identifier: CA2695217720
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2735994
ClinVar RCV Id: RCV003557799
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189426_20189429del , CM000675.2:g.20189426_20189429del GRCh38
NC_000013.10:g.20763565_20763568del , CM000675.1:g.20763565_20763568del GRCh37
NC_000013.9:g.19661565_19661568del NCBI36
NG_008358.1:g.8549_8552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.155_158del ENSP00000372295.1:p.Val52AlafsTer29
ENST00000382848.5:c.155_158del MANE Select ENSP00000372299.4:p.Val52AlafsTer29
ENST00000382844.1:c.155_158del ENSP00000372295.1:p.Val52AlafsTer29
ENST00000382848.4:c.155_158del ENSP00000372299.4:p.Val52AlafsTer29
NM_004004.5:c.155_158del NP_003995.2:p.Val52AlafsTer29
XM_011535049.1:c.155_158del XP_011533351.1:p.Val52AlafsTer29
XM_011535049.2:c.155_158del XP_011533351.1:p.Val52AlafsTer29
NM_004004.6:c.155_158del MANE Select NP_003995.2:p.Val52AlafsTer29
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