Canonical Allele Identifier: CA2695217670

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189199_20189205dup , CM000675.2:g.20189199_20189205dup	GRCh38
NC_000013.10:g.20763338_20763344dup , CM000675.1:g.20763338_20763344dup	GRCh37
NC_000013.9:g.19661338_19661344dup	NCBI36
NG_008358.1:g.8771_8777dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.377_383dup	ENSP00000372295.1:p.Glu129ProfsTer?
ENST00000382848.5:c.377_383dup MANE Select	ENSP00000372299.4:p.Glu129ProfsTer?
ENST00000382844.1:c.377_383dup	ENSP00000372295.1:p.Glu129ProfsTer?
ENST00000382848.4:c.377_383dup	ENSP00000372299.4:p.Glu129ProfsTer?
NM_004004.5:c.377_383dup	NP_003995.2:p.Glu129ProfsTer?
XM_011535049.1:c.377_383dup	XP_011533351.1:p.Glu129ProfsTer?
XM_011535049.2:c.377_383dup	XP_011533351.1:p.Glu129ProfsTer?
NM_004004.6:c.377_383dup MANE Select	NP_003995.2:p.Glu129ProfsTer?