Canonical Allele Identifier: CA2622252552
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192649-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192649C>A , CM000675.2:g.20192649C>A GRCh38
NC_000013.10:g.20766788C>A , CM000675.1:g.20766788C>A GRCh37
NC_000013.9:g.19664788C>A NCBI36
NG_008358.1:g.5327G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+134G>T MANE Select ENSP00000372299.4:n.-23+134G>T
ENST00000382848.4:c.-23+134G>T ENSP00000372299.4:n.-23+134G>T
NM_004004.5:c.-23+134G>T NP_003995.2:n.-23+134G>T
NM_004004.6:c.-23+134G>T MANE Select NP_003995.2:n.-23+134G>T
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