Canonical Allele Identifier: CA16041592
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1057517521

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189008_20189009del , CM000675.2:g.20189008_20189009del GRCh38
NC_000013.10:g.20763147_20763148del , CM000675.1:g.20763147_20763148del GRCh37
NC_000013.9:g.19661147_19661148del NCBI36
NG_008358.1:g.8969_8970del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.575_576del ENSP00000372295.1:p.Thr192SerfsTer17
ENST00000382848.5:c.575_576del MANE Select ENSP00000372299.4:p.Thr192SerfsTer17
ENST00000382844.1:c.575_576del ENSP00000372295.1:p.Thr192SerfsTer17
ENST00000382848.4:c.575_576del ENSP00000372299.4:p.Thr192SerfsTer17
NM_004004.5:c.575_576del NP_003995.2:p.Thr192SerfsTer17
XM_011535049.1:c.575_576del XP_011533351.1:p.Thr192SerfsTer17
XM_011535049.2:c.575_576del XP_011533351.1:p.Thr192SerfsTer17
NM_004004.6:c.575_576del MANE Select NP_003995.2:p.Thr192SerfsTer17