Canonical Allele Identifier: CA261653

Gene: GJB2

Linked Data

• ClinVar Variation Id: 44761
• ClinVar RCV Id: RCV000037866 ; RCV000211782 ; RCV000727541 ; RCV000678892 ; RCV002271384
• dbSNP Id: rs111033335
• MyVariant Identifiers: chr13:g.20763121_20763129delinsGAATGTCATGAACACTG (hg19) ; chr13:g.20188982_20188990delinsGAATGTCATGAACACTG (hg38)
• PubMed: PMID:17041943 ; PMID:20154630

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG , CM000675.2:g.20188982_20188990delinsGAATGTCATGAACACTG	GRCh38
NC_000013.10:g.20763121_20763129delinsGAATGTCATGAACACTG , CM000675.1:g.20763121_20763129delinsGAATGTCATGAACACTG	GRCh37
NC_000013.9:g.19661121_19661129delinsGAATGTCATGAACACTG	NCBI36
NG_008358.1:g.8986_8994delinsCAGTGTTCATGACATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.592_600delinsCAGTGTTCATGACATTC	ENSP00000372295.1:p.Val198GlnfsTer4
ENST00000382848.5:c.592_600delinsCAGTGTTCATGACATTC MANE Select	ENSP00000372299.4:p.Val198GlnfsTer4
ENST00000382844.1:c.592_600delinsCAGTGTTCATGACATTC	ENSP00000372295.1:p.Val198GlnfsTer4
ENST00000382848.4:c.592_600delinsCAGTGTTCATGACATTC	ENSP00000372299.4:p.Val198GlnfsTer4
NM_004004.5:c.592_600delinsCAGTGTTCATGACATTC	NP_003995.2:p.Val198GlnfsTer4
XM_011535049.1:c.592_600delinsCAGTGTTCATGACATTC	XP_011533351.1:p.Val198GlnfsTer4
XM_011535049.2:c.592_600delinsCAGTGTTCATGACATTC	XP_011533351.1:p.Val198GlnfsTer4
NM_004004.6:c.592_600delinsCAGTGTTCATGACATTC MANE Select	NP_003995.2:p.Val198GlnfsTer4