Canonical Allele Identifier: CA2622251881
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188778-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188778G>T , CM000675.2:g.20188778G>T GRCh38
NC_000013.10:g.20762917G>T , CM000675.1:g.20762917G>T GRCh37
NC_000013.9:g.19660917G>T NCBI36
NG_008358.1:g.9198C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*123C>A ENSP00000372295.1:n.*123C>A
ENST00000382848.5:c.*123C>A MANE Select ENSP00000372299.4:n.*123C>A
ENST00000382844.1:c.*123C>A ENSP00000372295.1:n.*123C>A
ENST00000382848.4:c.*123C>A ENSP00000372299.4:n.*123C>A
NM_004004.5:c.*123C>A NP_003995.2:n.*123C>A
XM_011535049.1:c.*123C>A XP_011533351.1:n.*123C>A
XM_011535049.2:c.*123C>A XP_011533351.1:n.*123C>A
NM_004004.6:c.*123C>A MANE Select NP_003995.2:n.*123C>A
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