Canonical Allele Identifier: CA2622252790
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192790-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192790G>T , CM000675.2:g.20192790G>T GRCh38
NC_000013.10:g.20766929G>T , CM000675.1:g.20766929G>T GRCh37
NC_000013.9:g.19664929G>T NCBI36
NG_008358.1:g.5186C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-30C>A MANE Select ENSP00000372299.4:n.-30C>A
ENST00000382848.4:c.-30C>A ENSP00000372299.4:n.-30C>A
NM_004004.5:c.-30C>A NP_003995.2:n.-30C>A
NM_004004.6:c.-30C>A MANE Select NP_003995.2:n.-30C>A
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