Canonical Allele Identifier: CA658823452

Gene: GJB2

Linked Data

• ClinVar Variation Id: 556762
• ClinVar RCV Id: RCV000672814
• dbSNP Id: rs1555341931

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189254_20189255delinsT , CM000675.2:g.20189254_20189255delinsT	GRCh38
NC_000013.10:g.20763393_20763394delinsT , CM000675.1:g.20763393_20763394delinsT	GRCh37
NC_000013.9:g.19661393_19661394delinsT	NCBI36
NG_008358.1:g.8721_8722delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.327_328delinsA	ENSP00000372295.1:p.Glu110ArgfsTer2
ENST00000382848.5:c.327_328delinsA MANE Select	ENSP00000372299.4:p.Glu110ArgfsTer2
ENST00000382844.1:c.327_328delinsA	ENSP00000372295.1:p.Glu110ArgfsTer2
ENST00000382848.4:c.327_328delinsA	ENSP00000372299.4:p.Glu110ArgfsTer2
NM_004004.5:c.327_328delinsA	NP_003995.2:p.Glu110ArgfsTer2
XM_011535049.1:c.327_328delinsA	XP_011533351.1:p.Glu110ArgfsTer2
XM_011535049.2:c.327_328delinsA	XP_011533351.1:p.Glu110ArgfsTer2
NM_004004.6:c.327_328delinsA MANE Select	NP_003995.2:p.Glu110ArgfsTer2