Canonical Allele Identifier: CA2077138375
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188710G= , CM000675.2:g.20188710G= GRCh38
NC_000013.10:g.20762849G= , CM000675.1:g.20762849G= GRCh37
NC_000013.9:g.19660849G= NCBI36
NG_008358.1:g.9266C=

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*191C= ENSP00000372295.1:n.*191C=
ENST00000382848.5:c.*191C= MANE Select ENSP00000372299.4:n.*191C=
ENST00000382844.1:c.*191C= ENSP00000372295.1:n.*191C=
ENST00000382848.4:c.*191C= ENSP00000372299.4:n.*191C=
NM_004004.5:c.*191C= NP_003995.2:n.*191C=
XM_011535049.1:c.*191C= XP_011533351.1:n.*191C=
XM_011535049.2:c.*191C= XP_011533351.1:n.*191C=
NM_004004.6:c.*191C= MANE Select NP_003995.2:n.*191C=
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