Canonical Allele Identifier: CA6904305

Gene: GJB2

Linked Data

• ClinVar Variation Id: 284906
• ClinVar RCV Id: RCV000374903 ; RCV000725553 ; RCV001000906
• dbSNP Id: rs750188782
• ExAC: 13:20763529 GCACACGTTCTTGCAGC / G
• gnomAD v2: 13-20763529-GCACACGTTCTTGCAGC-G
• gnomAD v4: 13-20189390-GCACACGTTCTTGCAGC-G
• MyVariant Identifiers: chr13:g.20763530_20763545del (hg19) ; chr13:g.20189391_20189406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189392_20189407del , CM000675.2:g.20189392_20189407del	GRCh38
NC_000013.10:g.20763531_20763546del , CM000675.1:g.20763531_20763546del	GRCh37
NC_000013.9:g.19661531_19661546del	NCBI36
NG_008358.1:g.8570_8585del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.176_191del	ENSP00000372295.1:p.Gly59AlafsTer18
ENST00000382848.5:c.176_191del MANE Select	ENSP00000372299.4:p.Gly59AlafsTer18
ENST00000382844.1:c.176_191del	ENSP00000372295.1:p.Gly59AlafsTer18
ENST00000382848.4:c.176_191del	ENSP00000372299.4:p.Gly59AlafsTer18
NM_004004.5:c.176_191del	NP_003995.2:p.Gly59AlafsTer18
XM_011535049.1:c.176_191del	XP_011533351.1:p.Gly59AlafsTer18
XM_011535049.2:c.176_191del	XP_011533351.1:p.Gly59AlafsTer18
NM_004004.6:c.176_191del MANE Select	NP_003995.2:p.Gly59AlafsTer18