Canonical Allele Identifier: CA2622251766
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188707-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188707G>T , CM000675.2:g.20188707G>T GRCh38
NC_000013.10:g.20762846G>T , CM000675.1:g.20762846G>T GRCh37
NC_000013.9:g.19660846G>T NCBI36
NG_008358.1:g.9269C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*194C>A ENSP00000372295.1:n.*194C>A
ENST00000382848.5:c.*194C>A MANE Select ENSP00000372299.4:n.*194C>A
ENST00000382844.1:c.*194C>A ENSP00000372295.1:n.*194C>A
ENST00000382848.4:c.*194C>A ENSP00000372299.4:n.*194C>A
NM_004004.5:c.*194C>A NP_003995.2:n.*194C>A
XM_011535049.1:c.*194C>A XP_011533351.1:n.*194C>A
XM_011535049.2:c.*194C>A XP_011533351.1:n.*194C>A
NM_004004.6:c.*194C>A MANE Select NP_003995.2:n.*194C>A
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