Canonical Allele Identifier: CA2622252799
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192796-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192796A>T , CM000675.2:g.20192796A>T GRCh38
NC_000013.10:g.20766935A>T , CM000675.1:g.20766935A>T GRCh37
NC_000013.9:g.19664935A>T NCBI36
NG_008358.1:g.5180T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-36T>A MANE Select ENSP00000372299.4:n.-36T>A
ENST00000382848.4:c.-36T>A ENSP00000372299.4:n.-36T>A
NM_004004.5:c.-36T>A NP_003995.2:n.-36T>A
NM_004004.6:c.-36T>A MANE Select NP_003995.2:n.-36T>A
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