Canonical Allele Identifier: CA608984157
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1170091565
gnomAD v2: 13-20763873-CA-C
gnomAD v3: 13-20189734-CA-C
gnomAD v4: 13-20189734-CA-C
MyVariant Identifiers: chr13:g.20763874del (hg19) chr13:g.20189735del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189738del , CM000675.2:g.20189738del GRCh38
NC_000013.10:g.20763877del , CM000675.1:g.20763877del GRCh37
NC_000013.9:g.19661877del NCBI36
NG_008358.1:g.8241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-154del ENSP00000372295.1:n.-154del
ENST00000382848.5:c.-22-132del MANE Select ENSP00000372299.4:n.-22-132del
ENST00000382844.1:c.-154del ENSP00000372295.1:n.-154del
ENST00000382848.4:c.-22-132del ENSP00000372299.4:n.-22-132del
NM_004004.5:c.-22-132del NP_003995.2:n.-22-132del
XM_011535049.1:c.-22-132del XP_011533351.1:n.-22-132del
XM_011535049.2:c.-22-132del XP_011533351.1:n.-22-132del
NM_004004.6:c.-22-132del MANE Select NP_003995.2:n.-22-132del
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