Canonical Allele Identifier: CA2573053787
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1319975
ClinVar RCV Id: RCV001775052
dbSNP Id: rs2137308192

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189335_20189337del , CM000675.2:g.20189335_20189337del GRCh38
NC_000013.10:g.20763474_20763476del , CM000675.1:g.20763474_20763476del GRCh37
NC_000013.9:g.19661474_19661476del NCBI36
NG_008358.1:g.8641_8643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.247_249del ENSP00000372295.1:p.Phe83del
ENST00000382848.5:c.247_249del MANE Select ENSP00000372299.4:p.Phe83del
ENST00000382844.1:c.247_249del ENSP00000372295.1:p.Phe83del
ENST00000382848.4:c.247_249del ENSP00000372299.4:p.Phe83del
NM_004004.5:c.247_249del NP_003995.2:p.Phe83del
XM_011535049.1:c.247_249del XP_011533351.1:p.Phe83del
XM_011535049.2:c.247_249del XP_011533351.1:p.Phe83del
NM_004004.6:c.247_249del MANE Select NP_003995.2:p.Phe83del