Canonical Allele Identifier: CA2077114362
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1593353536
gnomAD v4: 13-20192639-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192639G>A , CM000675.2:g.20192639G>A GRCh38
NC_000013.10:g.20766778G>A , CM000675.1:g.20766778G>A GRCh37
NC_000013.9:g.19664778G>A NCBI36
NG_008358.1:g.5337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+144C>T MANE Select ENSP00000372299.4:n.-23+144C>T
ENST00000382848.4:c.-23+144C>T ENSP00000372299.4:n.-23+144C>T
NM_004004.5:c.-23+144C>T NP_003995.2:n.-23+144C>T
NM_004004.6:c.-23+144C>T MANE Select NP_003995.2:n.-23+144C>T
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