Canonical Allele Identifier: CA2077110763
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189906T= , CM000675.2:g.20189906T= GRCh38
NC_000013.10:g.20764045T= , CM000675.1:g.20764045T= GRCh37
NC_000013.9:g.19662045T= NCBI36
NG_008358.1:g.8070A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-22-303A= MANE Select ENSP00000372299.4:n.-22-303A=
ENST00000382848.4:c.-22-303A= ENSP00000372299.4:n.-22-303A=
NM_004004.5:c.-22-303A= NP_003995.2:n.-22-303A=
XM_011535049.1:c.-22-303A= XP_011533351.1:n.-22-303A=
XM_011535049.2:c.-22-303A= XP_011533351.1:n.-22-303A=
NM_004004.6:c.-22-303A= MANE Select NP_003995.2:n.-22-303A=
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