Canonical Allele Identifier: CA2695217675
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2907437
ClinVar RCV Id: RCV003727128
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189227_20189230dup , CM000675.2:g.20189227_20189230dup GRCh38
NC_000013.10:g.20763366_20763369dup , CM000675.1:g.20763366_20763369dup GRCh37
NC_000013.9:g.19661366_19661369dup NCBI36
NG_008358.1:g.8747_8750dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.353_356dup ENSP00000372295.1:p.Glu119AspfsTer?
ENST00000382848.5:c.353_356dup MANE Select ENSP00000372299.4:p.Glu119AspfsTer?
ENST00000382844.1:c.353_356dup ENSP00000372295.1:p.Glu119AspfsTer?
ENST00000382848.4:c.353_356dup ENSP00000372299.4:p.Glu119AspfsTer?
NM_004004.5:c.353_356dup NP_003995.2:p.Glu119AspfsTer?
XM_011535049.1:c.353_356dup XP_011533351.1:p.Glu119AspfsTer?
XM_011535049.2:c.353_356dup XP_011533351.1:p.Glu119AspfsTer?
NM_004004.6:c.353_356dup MANE Select NP_003995.2:p.Glu119AspfsTer?
Search 100 bp 5'
Search 100 bp 3'