Canonical Allele Identifier: CA2622252307

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189519-TCCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189520_20189523del , CM000675.2:g.20189520_20189523del	GRCh38
NC_000013.10:g.20763659_20763662del , CM000675.1:g.20763659_20763662del	GRCh37
NC_000013.9:g.19661659_19661662del	NCBI36
NG_008358.1:g.8453_8456del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.59_62del	ENSP00000372295.1:p.Ile20LysfsTer14
ENST00000382848.5:c.59_62del MANE Select	ENSP00000372299.4:p.Ile20LysfsTer14
ENST00000382844.1:c.59_62del	ENSP00000372295.1:p.Ile20LysfsTer14
ENST00000382848.4:c.59_62del	ENSP00000372299.4:p.Ile20LysfsTer14
NM_004004.5:c.59_62del	NP_003995.2:p.Ile20LysfsTer14
XM_011535049.1:c.59_62del	XP_011533351.1:p.Ile20LysfsTer14
XM_011535049.2:c.59_62del	XP_011533351.1:p.Ile20LysfsTer14
NM_004004.6:c.59_62del MANE Select	NP_003995.2:p.Ile20LysfsTer14