Canonical Allele Identifier: CA2077139585

Gene: GJB2

Linked Data

• dbSNP Id: rs1959059466

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189275_20189276insTCTGAAGAGTGGATCTCACTTG , CM000675.2:g.20189275_20189276insTCTGAAGAGTGGATCTCACTTG	GRCh38
NC_000013.10:g.20763414_20763415insTCTGAAGAGTGGATCTCACTTG , CM000675.1:g.20763414_20763415insTCTGAAGAGTGGATCTCACTTG	GRCh37
NC_000013.9:g.19661414_19661415insTCTGAAGAGTGGATCTCACTTG	NCBI36
NG_008358.1:g.8700_8701insCAAGTGAGATCCACTCTTCAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.306_307insCAAGTGAGATCCACTCTTCAGA	ENSP00000372295.1:p.Lys103GlnfsTer19
ENST00000382848.5:c.306_307insCAAGTGAGATCCACTCTTCAGA MANE Select	ENSP00000372299.4:p.Lys103GlnfsTer19
ENST00000382844.1:c.306_307insCAAGTGAGATCCACTCTTCAGA	ENSP00000372295.1:p.Lys103GlnfsTer19
ENST00000382848.4:c.306_307insCAAGTGAGATCCACTCTTCAGA	ENSP00000372299.4:p.Lys103GlnfsTer19
NM_004004.5:c.306_307insCAAGTGAGATCCACTCTTCAGA	NP_003995.2:p.Lys103GlnfsTer19
XM_011535049.1:c.306_307insCAAGTGAGATCCACTCTTCAGA	XP_011533351.1:p.Lys103GlnfsTer19
XM_011535049.2:c.306_307insCAAGTGAGATCCACTCTTCAGA	XP_011533351.1:p.Lys103GlnfsTer19
NM_004004.6:c.306_307insCAAGTGAGATCCACTCTTCAGA MANE Select	NP_003995.2:p.Lys103GlnfsTer19