Canonical Allele Identifier: CA2077138381
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188719G= , CM000675.2:g.20188719G= GRCh38
NC_000013.10:g.20762858G= , CM000675.1:g.20762858G= GRCh37
NC_000013.9:g.19660858G= NCBI36
NG_008358.1:g.9257C=

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*182C= ENSP00000372295.1:n.*182C=
ENST00000382848.5:c.*182C= MANE Select ENSP00000372299.4:n.*182C=
ENST00000382844.1:c.*182C= ENSP00000372295.1:n.*182C=
ENST00000382848.4:c.*182C= ENSP00000372299.4:n.*182C=
NM_004004.5:c.*182C= NP_003995.2:n.*182C=
XM_011535049.1:c.*182C= XP_011533351.1:n.*182C=
XM_011535049.2:c.*182C= XP_011533351.1:n.*182C=
NM_004004.6:c.*182C= MANE Select NP_003995.2:n.*182C=
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