Canonical Allele Identifier: CA274322

Gene: GJB2

Linked Data

• ClinVar Variation Id: 189051
• ClinVar RCV Id: RCV002222422 ; RCV002498844
• dbSNP Id: rs756484720
• gnomAD v2: 13-20763385-CTT-C
• gnomAD v3: 13-20189246-CTT-C
• gnomAD v4: 13-20189246-CTT-C
• MyVariant Identifiers: chr13:g.20763386_20763387del (hg19) ; chr13:g.20763386_20763387delTT (hg19) ; chr13:g.20189247_20189248del (hg38)
• PubMed: PMID:9529365 ; PMID:12172394 ; PMID:17666888 ; PMID:21465647 ; PMID:22695344 ; PMID:23141775 ; PMID:24158611 ; PMID:25587757 ; PMID:26561413 ; PMID:26990548 ; PMID:27177978

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189248_20189249del , CM000675.2:g.20189248_20189249del	GRCh38
NC_000013.10:g.20763387_20763388del , CM000675.1:g.20763387_20763388del	GRCh37
NC_000013.9:g.19661387_19661388del	NCBI36
NG_008358.1:g.8728_8729del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.334_335del	ENSP00000372295.1:p.Lys112GlufsTer2
ENST00000382848.5:c.334_335del MANE Select	ENSP00000372299.4:p.Lys112GlufsTer2
ENST00000382844.1:c.334_335del	ENSP00000372295.1:p.Lys112GlufsTer2
ENST00000382848.4:c.334_335del	ENSP00000372299.4:p.Lys112GlufsTer2
NM_004004.5:c.334_335del	NP_003995.2:p.Lys112GlufsTer2
XM_011535049.1:c.334_335del	XP_011533351.1:p.Lys112GlufsTer2
XM_011535049.2:c.334_335del	XP_011533351.1:p.Lys112GlufsTer2
NM_004004.6:c.334_335del MANE Select	NP_003995.2:p.Lys112GlufsTer2