Canonical Allele Identifier: CA608984165
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 554454
ClinVar RCV Id: RCV000670090
dbSNP Id: rs1555341926
gnomAD v2: 13-20763379-T-TTCAC
gnomAD v4: 13-20189240-T-TTCAC
MyVariant Identifiers: chr13:g.20763379_20763380insTCAC (hg19) chr13:g.20189241_20189244dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189243_20189246dup , CM000675.2:g.20189243_20189246dup GRCh38
NC_000013.10:g.20763382_20763385dup , CM000675.1:g.20763382_20763385dup GRCh37
NC_000013.9:g.19661382_19661385dup NCBI36
NG_008358.1:g.8732_8735dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.338_341dup ENSP00000372295.1:p.Phe115Ter
ENST00000382848.5:c.338_341dup MANE Select ENSP00000372299.4:p.Phe115Ter
ENST00000382844.1:c.338_341dup ENSP00000372295.1:p.Phe115Ter
ENST00000382848.4:c.338_341dup ENSP00000372299.4:p.Phe115Ter
NM_004004.5:c.338_341dup NP_003995.2:p.Phe115Ter
XM_011535049.1:c.338_341dup XP_011533351.1:p.Phe115Ter
XM_011535049.2:c.338_341dup XP_011533351.1:p.Phe115Ter
NM_004004.6:c.338_341dup MANE Select NP_003995.2:p.Phe115Ter
Search 100 bp 5'
Search 100 bp 3'