Canonical Allele Identifier: CA2499221954
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1076706
ClinVar RCV Id: RCV001390692
dbSNP Id: rs2137308372
gnomAD v4: 13-20189381-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189382dup , CM000675.2:g.20189382dup GRCh38
NC_000013.10:g.20763521dup , CM000675.1:g.20763521dup GRCh37
NC_000013.9:g.19661521dup NCBI36
NG_008358.1:g.8594dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.200dup ENSP00000372295.1:p.His67GlnfsTer?
ENST00000382848.5:c.200dup MANE Select ENSP00000372299.4:p.His67GlnfsTer?
ENST00000382844.1:c.200dup ENSP00000372295.1:p.His67GlnfsTer?
ENST00000382848.4:c.200dup ENSP00000372299.4:p.His67GlnfsTer?
NM_004004.5:c.200dup NP_003995.2:p.His67GlnfsTer?
XM_011535049.1:c.200dup XP_011533351.1:p.His67GlnfsTer?
XM_011535049.2:c.200dup XP_011533351.1:p.His67GlnfsTer?
NM_004004.6:c.200dup MANE Select NP_003995.2:p.His67GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'