Canonical Allele Identifier: CA2077110723
Gene: GJB2 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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