Canonical Allele Identifier: CA2695217684

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189286_20189292dup , CM000675.2:g.20189286_20189292dup	GRCh38
NC_000013.10:g.20763425_20763431dup , CM000675.1:g.20763425_20763431dup	GRCh37
NC_000013.9:g.19661425_19661431dup	NCBI36
NG_008358.1:g.8686_8692dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.292_298dup	ENSP00000372295.1:p.His100ProfsTer4
ENST00000382848.5:c.292_298dup MANE Select	ENSP00000372299.4:p.His100ProfsTer4
ENST00000382844.1:c.292_298dup	ENSP00000372295.1:p.His100ProfsTer4
ENST00000382848.4:c.292_298dup	ENSP00000372299.4:p.His100ProfsTer4
NM_004004.5:c.292_298dup	NP_003995.2:p.His100ProfsTer4
XM_011535049.1:c.292_298dup	XP_011533351.1:p.His100ProfsTer4
XM_011535049.2:c.292_298dup	XP_011533351.1:p.His100ProfsTer4
NM_004004.6:c.292_298dup MANE Select	NP_003995.2:p.His100ProfsTer4