Canonical Allele Identifier: CA2622252423
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189779-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189779A>T , CM000675.2:g.20189779A>T GRCh38
NC_000013.10:g.20763918A>T , CM000675.1:g.20763918A>T GRCh37
NC_000013.9:g.19661918A>T NCBI36
NG_008358.1:g.8197T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-198T>A ENSP00000372295.1:n.-198T>A
ENST00000382848.5:c.-22-176T>A MANE Select ENSP00000372299.4:n.-22-176T>A
ENST00000382844.1:c.-198T>A ENSP00000372295.1:n.-198T>A
ENST00000382848.4:c.-22-176T>A ENSP00000372299.4:n.-22-176T>A
NM_004004.5:c.-22-176T>A NP_003995.2:n.-22-176T>A
XM_011535049.1:c.-22-176T>A XP_011533351.1:n.-22-176T>A
XM_011535049.2:c.-22-176T>A XP_011533351.1:n.-22-176T>A
NM_004004.6:c.-22-176T>A MANE Select NP_003995.2:n.-22-176T>A
Search 100 bp 5'
Search 100 bp 3'