Canonical Allele Identifier: CA2838187321
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188856C>G , CM000675.2:g.20188856C>G GRCh38
NC_000013.10:g.20762995C>G , CM000675.1:g.20762995C>G GRCh37
NC_000013.9:g.19660995C>G NCBI36
NG_008358.1:g.9120G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*45G>C ENSP00000372295.1:n.*45G>C
ENST00000382848.5:c.*45G>C MANE Select ENSP00000372299.4:n.*45G>C
ENST00000382844.1:c.*45G>C ENSP00000372295.1:n.*45G>C
ENST00000382848.4:c.*45G>C ENSP00000372299.4:n.*45G>C
NM_004004.5:c.*45G>C NP_003995.2:n.*45G>C
XM_011535049.1:c.*45G>C XP_011533351.1:n.*45G>C
XM_011535049.2:c.*45G>C XP_011533351.1:n.*45G>C
NM_004004.6:c.*45G>C MANE Select NP_003995.2:n.*45G>C
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