Canonical Allele Identifier: CA2695217653

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188990_20188994dup , CM000675.2:g.20188990_20188994dup	GRCh38
NC_000013.10:g.20763129_20763133dup , CM000675.1:g.20763129_20763133dup	GRCh37
NC_000013.9:g.19661129_19661133dup	NCBI36
NG_008358.1:g.8984_8988dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.590_594dup	ENSP00000372295.1:p.Ser199GlnfsTer9
ENST00000382848.5:c.590_594dup MANE Select	ENSP00000372299.4:p.Ser199GlnfsTer9
ENST00000382844.1:c.590_594dup	ENSP00000372295.1:p.Ser199GlnfsTer9
ENST00000382848.4:c.590_594dup	ENSP00000372299.4:p.Ser199GlnfsTer9
NM_004004.5:c.590_594dup	NP_003995.2:p.Ser199GlnfsTer9
XM_011535049.1:c.590_594dup	XP_011533351.1:p.Ser199GlnfsTer9
XM_011535049.2:c.590_594dup	XP_011533351.1:p.Ser199GlnfsTer9
NM_004004.6:c.590_594dup MANE Select	NP_003995.2:p.Ser199GlnfsTer9