Canonical Allele Identifier: CA2622252303
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189363-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189364dup , CM000675.2:g.20189364dup GRCh38
NC_000013.10:g.20763503dup , CM000675.1:g.20763503dup GRCh37
NC_000013.9:g.19661503dup NCBI36
NG_008358.1:g.8612dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.218dup ENSP00000372295.1:p.His73GlnfsTer29
ENST00000382848.5:c.218dup MANE Select ENSP00000372299.4:p.His73GlnfsTer29
ENST00000382844.1:c.218dup ENSP00000372295.1:p.His73GlnfsTer29
ENST00000382848.4:c.218dup ENSP00000372299.4:p.His73GlnfsTer29
NM_004004.5:c.218dup NP_003995.2:p.His73GlnfsTer29
XM_011535049.1:c.218dup XP_011533351.1:p.His73GlnfsTer29
XM_011535049.2:c.218dup XP_011533351.1:p.His73GlnfsTer29
NM_004004.6:c.218dup MANE Select NP_003995.2:p.His73GlnfsTer29
Search 100 bp 5'
Search 100 bp 3'