Canonical Allele Identifier: CA2077114452
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1868382161
gnomAD v4: 13-20192677-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192683del , CM000675.2:g.20192683del GRCh38
NC_000013.10:g.20766822del , CM000675.1:g.20766822del GRCh37
NC_000013.9:g.19664822del NCBI36
NG_008358.1:g.5298del

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+105del MANE Select ENSP00000372299.4:n.-23+105del
ENST00000382848.4:c.-23+105del ENSP00000372299.4:n.-23+105del
NM_004004.5:c.-23+105del NP_003995.2:n.-23+105del
NM_004004.6:c.-23+105del MANE Select NP_003995.2:n.-23+105del
Search 100 bp 5'
Search 100 bp 3'