Canonical Allele Identifier: CA696362935
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1266676765
MyVariant Identifiers: chr13:g.20763351del (hg19) chr13:g.20189212del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189214del , CM000675.2:g.20189214del GRCh38
NC_000013.10:g.20763353del , CM000675.1:g.20763353del GRCh37
NC_000013.9:g.19661353del NCBI36
NG_008358.1:g.8764del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.370del ENSP00000372295.1:p.Gln124ArgfsTer?
ENST00000382848.5:c.370del MANE Select ENSP00000372299.4:p.Gln124ArgfsTer?
ENST00000382844.1:c.370del ENSP00000372295.1:p.Gln124ArgfsTer?
ENST00000382848.4:c.370del ENSP00000372299.4:p.Gln124ArgfsTer?
NM_004004.5:c.370del NP_003995.2:p.Gln124ArgfsTer?
XM_011535049.1:c.370del XP_011533351.1:p.Gln124ArgfsTer?
XM_011535049.2:c.370del XP_011533351.1:p.Gln124ArgfsTer?
NM_004004.6:c.370del MANE Select NP_003995.2:p.Gln124ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'