Canonical Allele Identifier: CA2077137498
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187612A= , CM000675.2:g.20187612A= GRCh38
NC_000013.10:g.20761751A= , CM000675.1:g.20761751A= GRCh37
NC_000013.9:g.19659751A= NCBI36
NG_008358.1:g.10364T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1289T= ENSP00000372295.1:n.*1289T=
ENST00000382848.5:c.*1289T= MANE Select ENSP00000372299.4:n.*1289T=
ENST00000382844.1:c.*1289T= ENSP00000372295.1:n.*1289T=
ENST00000382848.4:c.*1289T= ENSP00000372299.4:n.*1289T=
NM_004004.5:c.*1289T= NP_003995.2:n.*1289T=
XM_011535049.1:c.*1289T= XP_011533351.1:n.*1289T=
XM_011535049.2:c.*1289T= XP_011533351.1:n.*1289T=
NM_004004.6:c.*1289T= MANE Select NP_003995.2:n.*1289T=
Search 100 bp 5'
Search 100 bp 3'