Canonical Allele Identifier: CA953783110
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1325610623
gnomAD v3: 13-20192683-C-G
gnomAD v4: 13-20192683-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192683C>G , CM000675.2:g.20192683C>G GRCh38
NC_000013.10:g.20766822C>G , CM000675.1:g.20766822C>G GRCh37
NC_000013.9:g.19664822C>G NCBI36
NG_008358.1:g.5293G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+100G>C MANE Select ENSP00000372299.4:n.-23+100G>C
ENST00000382848.4:c.-23+100G>C ENSP00000372299.4:n.-23+100G>C
NM_004004.5:c.-23+100G>C NP_003995.2:n.-23+100G>C
NM_004004.6:c.-23+100G>C MANE Select NP_003995.2:n.-23+100G>C
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