Canonical Allele Identifier: CA2695217672

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189218del , CM000675.2:g.20189218del	GRCh38
NC_000013.10:g.20763357del , CM000675.1:g.20763357del	GRCh37
NC_000013.9:g.19661357del	NCBI36
NG_008358.1:g.8761del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.367del	ENSP00000372295.1:p.Thr123ProfsTer?
ENST00000382848.5:c.367del MANE Select	ENSP00000372299.4:p.Thr123ProfsTer?
ENST00000382844.1:c.367del	ENSP00000372295.1:p.Thr123ProfsTer?
ENST00000382848.4:c.367del	ENSP00000372299.4:p.Thr123ProfsTer?
NM_004004.5:c.367del	NP_003995.2:p.Thr123ProfsTer?
XM_011535049.1:c.367del	XP_011533351.1:p.Thr123ProfsTer?
XM_011535049.2:c.367del	XP_011533351.1:p.Thr123ProfsTer?
NM_004004.6:c.367del MANE Select	NP_003995.2:p.Thr123ProfsTer?