Canonical Allele Identifier: CA2622252397
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189737-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189737A>C , CM000675.2:g.20189737A>C GRCh38
NC_000013.10:g.20763876A>C , CM000675.1:g.20763876A>C GRCh37
NC_000013.9:g.19661876A>C NCBI36
NG_008358.1:g.8239T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-156T>G ENSP00000372295.1:n.-156T>G
ENST00000382848.5:c.-22-134T>G MANE Select ENSP00000372299.4:n.-22-134T>G
ENST00000382844.1:c.-156T>G ENSP00000372295.1:n.-156T>G
ENST00000382848.4:c.-22-134T>G ENSP00000372299.4:n.-22-134T>G
NM_004004.5:c.-22-134T>G NP_003995.2:n.-22-134T>G
XM_011535049.1:c.-22-134T>G XP_011533351.1:n.-22-134T>G
XM_011535049.2:c.-22-134T>G XP_011533351.1:n.-22-134T>G
NM_004004.6:c.-22-134T>G MANE Select NP_003995.2:n.-22-134T>G
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