Canonical Allele Identifier: CA953783098
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1868381396
gnomAD v3: 13-20192653-G-C
gnomAD v4: 13-20192653-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192653G>C , CM000675.2:g.20192653G>C GRCh38
NC_000013.10:g.20766792G>C , CM000675.1:g.20766792G>C GRCh37
NC_000013.9:g.19664792G>C NCBI36
NG_008358.1:g.5323C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+130C>G MANE Select ENSP00000372299.4:n.-23+130C>G
ENST00000382848.4:c.-23+130C>G ENSP00000372299.4:n.-23+130C>G
NM_004004.5:c.-23+130C>G NP_003995.2:n.-23+130C>G
NM_004004.6:c.-23+130C>G MANE Select NP_003995.2:n.-23+130C>G
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