Canonical Allele Identifier: CA2842434867
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189249dup , CM000675.2:g.20189249dup GRCh38
NC_000013.10:g.20763388dup , CM000675.1:g.20763388dup GRCh37
NC_000013.9:g.19661388dup NCBI36
NG_008358.1:g.8729dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.335dup ENSP00000372295.1:p.Ser113GlufsTer2
ENST00000382848.5:c.335dup MANE Select ENSP00000372299.4:p.Ser113GlufsTer2
ENST00000382844.1:c.335dup ENSP00000372295.1:p.Ser113GlufsTer2
ENST00000382848.4:c.335dup ENSP00000372299.4:p.Ser113GlufsTer2
NM_004004.5:c.335dup NP_003995.2:p.Ser113GlufsTer2
XM_011535049.1:c.335dup XP_011533351.1:p.Ser113GlufsTer2
XM_011535049.2:c.335dup XP_011533351.1:p.Ser113GlufsTer2
NM_004004.6:c.335dup MANE Select NP_003995.2:p.Ser113GlufsTer2
Search 100 bp 5'
Search 100 bp 3'