Canonical Allele Identifier: CA10576936
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 228350
ClinVar RCV Id: RCV000213910 RCV001382464
dbSNP Id: rs876657693
gnomAD v2: 13-20763187-CACAGTGTTGGG-C
gnomAD v3: 13-20189048-CACAGTGTTGGG-C
gnomAD v4: 13-20189048-CACAGTGTTGGG-C
MyVariant Identifiers: chr13:g.20763188_20763198del (hg19) chr13:g.20189049_20189059del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189052_20189062del , CM000675.2:g.20189052_20189062del GRCh38
NC_000013.10:g.20763191_20763201del , CM000675.1:g.20763191_20763201del GRCh37
NC_000013.9:g.19661191_19661201del NCBI36
NG_008358.1:g.8917_8927del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.523_533del ENSP00000372295.1:p.Pro175GlyfsTer?
ENST00000382848.5:c.523_533del MANE Select ENSP00000372299.4:p.Pro175GlyfsTer?
ENST00000382844.1:c.523_533del ENSP00000372295.1:p.Pro175GlyfsTer?
ENST00000382848.4:c.523_533del ENSP00000372299.4:p.Pro175GlyfsTer?
NM_004004.5:c.523_533del NP_003995.2:p.Pro175GlyfsTer?
XM_011535049.1:c.523_533del XP_011533351.1:p.Pro175GlyfsTer?
XM_011535049.2:c.523_533del XP_011533351.1:p.Pro175GlyfsTer?
NM_004004.6:c.523_533del MANE Select NP_003995.2:p.Pro175GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'