Canonical Allele Identifier: CA2622251769
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188708-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188708A>G , CM000675.2:g.20188708A>G GRCh38
NC_000013.10:g.20762847A>G , CM000675.1:g.20762847A>G GRCh37
NC_000013.9:g.19660847A>G NCBI36
NG_008358.1:g.9268T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*193T>C ENSP00000372295.1:n.*193T>C
ENST00000382848.5:c.*193T>C MANE Select ENSP00000372299.4:n.*193T>C
ENST00000382844.1:c.*193T>C ENSP00000372295.1:n.*193T>C
ENST00000382848.4:c.*193T>C ENSP00000372299.4:n.*193T>C
NM_004004.5:c.*193T>C NP_003995.2:n.*193T>C
XM_011535049.1:c.*193T>C XP_011533351.1:n.*193T>C
XM_011535049.2:c.*193T>C XP_011533351.1:n.*193T>C
NM_004004.6:c.*193T>C MANE Select NP_003995.2:n.*193T>C
Search 100 bp 5'
Search 100 bp 3'