Canonical Allele Identifier: CA2622251886
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188782-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188782C>A , CM000675.2:g.20188782C>A GRCh38
NC_000013.10:g.20762921C>A , CM000675.1:g.20762921C>A GRCh37
NC_000013.9:g.19660921C>A NCBI36
NG_008358.1:g.9194G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*119G>T ENSP00000372295.1:n.*119G>T
ENST00000382848.5:c.*119G>T MANE Select ENSP00000372299.4:n.*119G>T
ENST00000382844.1:c.*119G>T ENSP00000372295.1:n.*119G>T
ENST00000382848.4:c.*119G>T ENSP00000372299.4:n.*119G>T
NM_004004.5:c.*119G>T NP_003995.2:n.*119G>T
XM_011535049.1:c.*119G>T XP_011533351.1:n.*119G>T
XM_011535049.2:c.*119G>T XP_011533351.1:n.*119G>T
NM_004004.6:c.*119G>T MANE Select NP_003995.2:n.*119G>T
Search 100 bp 5'
Search 100 bp 3'