Canonical Allele Identifier: CA2622252362
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20189687-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189687T>G , CM000675.2:g.20189687T>G GRCh38
NC_000013.10:g.20763826T>G , CM000675.1:g.20763826T>G GRCh37
NC_000013.9:g.19661826T>G NCBI36
NG_008358.1:g.8289A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-106A>C ENSP00000372295.1:n.-106A>C
ENST00000382848.5:c.-22-84A>C MANE Select ENSP00000372299.4:n.-22-84A>C
ENST00000382844.1:c.-106A>C ENSP00000372295.1:n.-106A>C
ENST00000382848.4:c.-22-84A>C ENSP00000372299.4:n.-22-84A>C
NM_004004.5:c.-22-84A>C NP_003995.2:n.-22-84A>C
XM_011535049.1:c.-22-84A>C XP_011533351.1:n.-22-84A>C
XM_011535049.2:c.-22-84A>C XP_011533351.1:n.-22-84A>C
NM_004004.6:c.-22-84A>C MANE Select NP_003995.2:n.-22-84A>C
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