Canonical Allele Identifier: CA1139663003
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 917725
ClinVar RCV Id: RCV001174935
dbSNP Id: rs1959062436
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189471_20189473del , CM000675.2:g.20189471_20189473del GRCh38
NC_000013.10:g.20763610_20763612del , CM000675.1:g.20763610_20763612del GRCh37
NC_000013.9:g.19661610_19661612del NCBI36
NG_008358.1:g.8505_8507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.111_113del ENSP00000372295.1:p.Val38del
ENST00000382848.5:c.111_113del MANE Select ENSP00000372299.4:p.Val38del
ENST00000382844.1:c.111_113del ENSP00000372295.1:p.Val38del
ENST00000382848.4:c.111_113del ENSP00000372299.4:p.Val38del
NM_004004.5:c.111_113del NP_003995.2:p.Val38del
XM_011535049.1:c.111_113del XP_011533351.1:p.Val38del
XM_011535049.2:c.111_113del XP_011533351.1:p.Val38del
NM_004004.6:c.111_113del MANE Select NP_003995.2:p.Val38del
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