Canonical Allele Identifier: CA2575364823

Gene: GJB2

Linked Data

• ClinVar Variation Id: 1997743
• ClinVar RCV Id: RCV002791927

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189438del , CM000675.2:g.20189438del	GRCh38
NC_000013.10:g.20763577del , CM000675.1:g.20763577del	GRCh37
NC_000013.9:g.19661577del	NCBI36
NG_008358.1:g.8539del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.145del	ENSP00000372295.1:p.Ala49ProfsTer?
ENST00000382848.5:c.145del MANE Select	ENSP00000372299.4:p.Ala49ProfsTer?
ENST00000382844.1:c.145del	ENSP00000372295.1:p.Ala49ProfsTer?
ENST00000382848.4:c.145del	ENSP00000372299.4:p.Ala49ProfsTer?
NM_004004.5:c.145del	NP_003995.2:p.Ala49ProfsTer?
XM_011535049.1:c.145del	XP_011533351.1:p.Ala49ProfsTer?
XM_011535049.2:c.145del	XP_011533351.1:p.Ala49ProfsTer?
NM_004004.6:c.145del MANE Select	NP_003995.2:p.Ala49ProfsTer?