Canonical Allele Identifier: CA2575364769
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188844-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188844G>C , CM000675.2:g.20188844G>C GRCh38
NC_000013.10:g.20762983G>C , CM000675.1:g.20762983G>C GRCh37
NC_000013.9:g.19660983G>C NCBI36
NG_008358.1:g.9132C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*57C>G ENSP00000372295.1:n.*57C>G
ENST00000382848.5:c.*57C>G MANE Select ENSP00000372299.4:n.*57C>G
ENST00000382844.1:c.*57C>G ENSP00000372295.1:n.*57C>G
ENST00000382848.4:c.*57C>G ENSP00000372299.4:n.*57C>G
NM_004004.5:c.*57C>G NP_003995.2:n.*57C>G
XM_011535049.1:c.*57C>G XP_011533351.1:n.*57C>G
XM_011535049.2:c.*57C>G XP_011533351.1:n.*57C>G
NM_004004.6:c.*57C>G MANE Select NP_003995.2:n.*57C>G
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