Canonical Allele Identifier: CA261644

Gene: GJB2

Linked Data

• ClinVar Variation Id: 44738
• ClinVar RCV Id: RCV000037837 ; RCV000409896 ; RCV000411009 ; RCV000517627 ; RCV001527052 ; RCV003904923
• dbSNP Id: rs397516873
• ExAC: 13:20763652 GATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC / G
• gnomAD v2: 13-20763652-GATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC-G
• gnomAD v3: 13-20189513-GATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC-G
• gnomAD v4: 13-20189513-GATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC-G
• MyVariant Identifiers: chr13:g.20763653_20763690del (hg19) ; chr13:g.20189514_20189551del (hg38)
• PubMed: PMID:9336442 ; PMID:9529365 ; PMID:12189487 ; PMID:16380907 ; PMID:21465647 ; PMID:25214170

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189514_20189551del , CM000675.2:g.20189514_20189551del	GRCh38
NC_000013.10:g.20763653_20763690del , CM000675.1:g.20763653_20763690del	GRCh37
NC_000013.9:g.19661653_19661690del	NCBI36
NG_008358.1:g.8425_8462del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.31_68del	ENSP00000372295.1:p.Gly11LeufsTer24
ENST00000382848.5:c.31_68del MANE Select	ENSP00000372299.4:p.Gly11LeufsTer24
ENST00000382844.1:c.31_68del	ENSP00000372295.1:p.Gly11LeufsTer24
ENST00000382848.4:c.31_68del	ENSP00000372299.4:p.Gly11LeufsTer24
NM_004004.5:c.31_68del	NP_003995.2:p.Gly11LeufsTer24
XM_011535049.1:c.31_68del	XP_011533351.1:p.Gly11LeufsTer24
XM_011535049.2:c.31_68del	XP_011533351.1:p.Gly11LeufsTer24
NM_004004.6:c.31_68del MANE Select	NP_003995.2:p.Gly11LeufsTer24