Canonical Allele Identifier: CA2622252624
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192686-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192686T>C , CM000675.2:g.20192686T>C GRCh38
NC_000013.10:g.20766825T>C , CM000675.1:g.20766825T>C GRCh37
NC_000013.9:g.19664825T>C NCBI36
NG_008358.1:g.5290A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+97A>G MANE Select ENSP00000372299.4:n.-23+97A>G
ENST00000382848.4:c.-23+97A>G ENSP00000372299.4:n.-23+97A>G
NM_004004.5:c.-23+97A>G NP_003995.2:n.-23+97A>G
NM_004004.6:c.-23+97A>G MANE Select NP_003995.2:n.-23+97A>G
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