Canonical Allele Identifier: CA2077114369
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192645C= , CM000675.2:g.20192645C= GRCh38
NC_000013.10:g.20766784C= , CM000675.1:g.20766784C= GRCh37
NC_000013.9:g.19664784C= NCBI36
NG_008358.1:g.5331G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+138G= MANE Select ENSP00000372299.4:n.-23+138G=
ENST00000382848.4:c.-23+138G= ENSP00000372299.4:n.-23+138G=
NM_004004.5:c.-23+138G= NP_003995.2:n.-23+138G=
NM_004004.6:c.-23+138G= MANE Select NP_003995.2:n.-23+138G=
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