Canonical Allele Identifier: CA2077139122

Gene: GJB2

Linked Data

• ClinVar Variation Id: 2506579
• ClinVar RCV Id: RCV003236760
• dbSNP Id: rs1959057429

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189116_20189133dup , CM000675.2:g.20189116_20189133dup	GRCh38
NC_000013.10:g.20763255_20763272dup , CM000675.1:g.20763255_20763272dup	GRCh37
NC_000013.9:g.19661255_19661272dup	NCBI36
NG_008358.1:g.8852_8869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.458_475dup	ENSP00000372295.1:p.Tyr158_Asp159insValPheTyrValMetTyr
ENST00000382848.5:c.458_475dup MANE Select	ENSP00000372299.4:p.Tyr158_Asp159insValPheTyrValMetTyr
ENST00000382844.1:c.458_475dup	ENSP00000372295.1:p.Tyr158_Asp159insValPheTyrValMetTyr
ENST00000382848.4:c.458_475dup	ENSP00000372299.4:p.Tyr158_Asp159insValPheTyrValMetTyr
NM_004004.5:c.458_475dup	NP_003995.2:p.Tyr158_Asp159insValPheTyrValMetTyr
XM_011535049.1:c.458_475dup	XP_011533351.1:p.Tyr158_Asp159insValPheTyrValMetTyr
XM_011535049.2:c.458_475dup	XP_011533351.1:p.Tyr158_Asp159insValPheTyrValMetTyr
NM_004004.6:c.458_475dup MANE Select	NP_003995.2:p.Tyr158_Asp159insValPheTyrValMetTyr