Canonical Allele Identifier: CA919221237
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1566529192
gnomAD v4: 13-20189649-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189650dup , CM000675.2:g.20189650dup GRCh38
NC_000013.10:g.20763789dup , CM000675.1:g.20763789dup GRCh37
NC_000013.9:g.19661789dup NCBI36
NG_008358.1:g.8326dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-69dup ENSP00000372295.1:n.-69dup
ENST00000382848.5:c.-22-47dup MANE Select ENSP00000372299.4:n.-22-47dup
ENST00000382844.1:c.-69dup ENSP00000372295.1:n.-69dup
ENST00000382848.4:c.-22-47dup ENSP00000372299.4:n.-22-47dup
NM_004004.5:c.-22-47dup NP_003995.2:n.-22-47dup
XM_011535049.1:c.-22-47dup XP_011533351.1:n.-22-47dup
XM_011535049.2:c.-22-47dup XP_011533351.1:n.-22-47dup
NM_004004.6:c.-22-47dup MANE Select NP_003995.2:n.-22-47dup
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