Canonical Allele Identifier: CA658823475
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 553568
ClinVar RCV Id: RCV000669046 RCV001257040 RCV001861773
dbSNP Id: rs1555341960
MyVariant Identifiers: chr13:g.20189350dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189352dup , CM000675.2:g.20189352dup GRCh38
NC_000013.10:g.20763491dup , CM000675.1:g.20763491dup GRCh37
NC_000013.9:g.19661491dup NCBI36
NG_008358.1:g.8626dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.232dup ENSP00000372295.1:p.Ala78GlyfsTer24
ENST00000382848.5:c.232dup MANE Select ENSP00000372299.4:p.Ala78GlyfsTer24
ENST00000382844.1:c.232dup ENSP00000372295.1:p.Ala78GlyfsTer24
ENST00000382848.4:c.232dup ENSP00000372299.4:p.Ala78GlyfsTer24
NM_004004.5:c.232dup NP_003995.2:p.Ala78GlyfsTer24
XM_011535049.1:c.232dup XP_011533351.1:p.Ala78GlyfsTer24
XM_011535049.2:c.232dup XP_011533351.1:p.Ala78GlyfsTer24
NM_004004.6:c.232dup MANE Select NP_003995.2:p.Ala78GlyfsTer24
Search 100 bp 5'
Search 100 bp 3'