Canonical Allele Identifier: CA2838896687
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188809dup , CM000675.2:g.20188809dup GRCh38
NC_000013.10:g.20762948dup , CM000675.1:g.20762948dup GRCh37
NC_000013.9:g.19660948dup NCBI36
NG_008358.1:g.9169dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*94dup ENSP00000372295.1:n.*94dup
ENST00000382848.5:c.*94dup MANE Select ENSP00000372299.4:n.*94dup
ENST00000382844.1:c.*94dup ENSP00000372295.1:n.*94dup
ENST00000382848.4:c.*94dup ENSP00000372299.4:n.*94dup
NM_004004.5:c.*94dup NP_003995.2:n.*94dup
XM_011535049.1:c.*94dup XP_011533351.1:n.*94dup
XM_011535049.2:c.*94dup XP_011533351.1:n.*94dup
NM_004004.6:c.*94dup MANE Select NP_003995.2:n.*94dup
Search 100 bp 5'
Search 100 bp 3'