Canonical Allele Identifier: CA2622251764
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188705-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188705T>C , CM000675.2:g.20188705T>C GRCh38
NC_000013.10:g.20762844T>C , CM000675.1:g.20762844T>C GRCh37
NC_000013.9:g.19660844T>C NCBI36
NG_008358.1:g.9271A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*196A>G ENSP00000372295.1:n.*196A>G
ENST00000382848.5:c.*196A>G MANE Select ENSP00000372299.4:n.*196A>G
ENST00000382844.1:c.*196A>G ENSP00000372295.1:n.*196A>G
ENST00000382848.4:c.*196A>G ENSP00000372299.4:n.*196A>G
NM_004004.5:c.*196A>G NP_003995.2:n.*196A>G
XM_011535049.1:c.*196A>G XP_011533351.1:n.*196A>G
XM_011535049.2:c.*196A>G XP_011533351.1:n.*196A>G
NM_004004.6:c.*196A>G MANE Select NP_003995.2:n.*196A>G
Search 100 bp 5'
Search 100 bp 3'