Canonical Allele Identifier: CA658653811
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 446032
ClinVar RCV Id: RCV000514335
dbSNP Id: rs1555342003
MyVariant Identifiers: chr13:g.20763634_20763636del (hg19) chr13:g.20189495_20189497del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189497_20189499del , CM000675.2:g.20189497_20189499del GRCh38
NC_000013.10:g.20763636_20763638del , CM000675.1:g.20763636_20763638del GRCh37
NC_000013.9:g.19661636_19661638del NCBI36
NG_008358.1:g.8479_8481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.85_87del ENSP00000372295.1:p.Phe29del
ENST00000382848.5:c.85_87del MANE Select ENSP00000372299.4:p.Phe29del
ENST00000382844.1:c.85_87del ENSP00000372295.1:p.Phe29del
ENST00000382848.4:c.85_87del ENSP00000372299.4:p.Phe29del
NM_004004.5:c.85_87del NP_003995.2:p.Phe29del
XM_011535049.1:c.85_87del XP_011533351.1:p.Phe29del
XM_011535049.2:c.85_87del XP_011533351.1:p.Phe29del
NM_004004.6:c.85_87del MANE Select NP_003995.2:p.Phe29del
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