Canonical Allele Identifier: CA246461413
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs969843452
gnomAD v4: 13-20189883-A-G
MyVariant Identifiers: chr13:g.20764022A>G (hg19) chr13:g.20189883A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189883A>G , CM000675.2:g.20189883A>G GRCh38
NC_000013.10:g.20764022A>G , CM000675.1:g.20764022A>G GRCh37
NC_000013.9:g.19662022A>G NCBI36
NG_008358.1:g.8093T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-22-280T>C MANE Select ENSP00000372299.4:n.-22-280T>C
ENST00000382848.4:c.-22-280T>C ENSP00000372299.4:n.-22-280T>C
NM_004004.5:c.-22-280T>C NP_003995.2:n.-22-280T>C
XM_011535049.1:c.-22-280T>C XP_011533351.1:n.-22-280T>C
XM_011535049.2:c.-22-280T>C XP_011533351.1:n.-22-280T>C
NM_004004.6:c.-22-280T>C MANE Select NP_003995.2:n.-22-280T>C
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