Canonical Allele Identifier: CA2077138458
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959053906
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188800_20188801del , CM000675.2:g.20188800_20188801del GRCh38
NC_000013.10:g.20762939_20762940del , CM000675.1:g.20762939_20762940del GRCh37
NC_000013.9:g.19660939_19660940del NCBI36
NG_008358.1:g.9176_9177del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*101_*102del ENSP00000372295.1:n.*101_*102del
ENST00000382848.5:c.*101_*102del MANE Select ENSP00000372299.4:n.*101_*102del
ENST00000382844.1:c.*101_*102del ENSP00000372295.1:n.*101_*102del
ENST00000382848.4:c.*101_*102del ENSP00000372299.4:n.*101_*102del
NM_004004.5:c.*101_*102del NP_003995.2:n.*101_*102del
XM_011535049.1:c.*101_*102del XP_011533351.1:n.*101_*102del
XM_011535049.2:c.*101_*102del XP_011533351.1:n.*101_*102del
NM_004004.6:c.*101_*102del MANE Select NP_003995.2:n.*101_*102del
Search 100 bp 5'
Search 100 bp 3'