Canonical Allele Identifier: CA2798416095
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187708T>A , CM000675.2:g.20187708T>A GRCh38
NC_000013.10:g.20761847T>A , CM000675.1:g.20761847T>A GRCh37
NC_000013.9:g.19659847T>A NCBI36
NG_008358.1:g.10268A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1193A>T ENSP00000372295.1:n.*1193A>T
ENST00000382848.5:c.*1193A>T MANE Select ENSP00000372299.4:n.*1193A>T
ENST00000382844.1:c.*1193A>T ENSP00000372295.1:n.*1193A>T
ENST00000382848.4:c.*1193A>T ENSP00000372299.4:n.*1193A>T
NM_004004.5:c.*1193A>T NP_003995.2:n.*1193A>T
XM_011535049.1:c.*1193A>T XP_011533351.1:n.*1193A>T
XM_011535049.2:c.*1193A>T XP_011533351.1:n.*1193A>T
NM_004004.6:c.*1193A>T MANE Select NP_003995.2:n.*1193A>T
Search 100 bp 5'
Search 100 bp 3'