Canonical Allele Identifier: CA2077138414
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959053601
gnomAD v4: 13-20188775-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188775A>G , CM000675.2:g.20188775A>G GRCh38
NC_000013.10:g.20762914A>G , CM000675.1:g.20762914A>G GRCh37
NC_000013.9:g.19660914A>G NCBI36
NG_008358.1:g.9201T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*126T>C ENSP00000372295.1:n.*126T>C
ENST00000382848.5:c.*126T>C MANE Select ENSP00000372299.4:n.*126T>C
ENST00000382844.1:c.*126T>C ENSP00000372295.1:n.*126T>C
ENST00000382848.4:c.*126T>C ENSP00000372299.4:n.*126T>C
NM_004004.5:c.*126T>C NP_003995.2:n.*126T>C
XM_011535049.1:c.*126T>C XP_011533351.1:n.*126T>C
XM_011535049.2:c.*126T>C XP_011533351.1:n.*126T>C
NM_004004.6:c.*126T>C MANE Select NP_003995.2:n.*126T>C
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