Canonical Allele Identifier: CA2077114446
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192676A= , CM000675.2:g.20192676A= GRCh38
NC_000013.10:g.20766815A= , CM000675.1:g.20766815A= GRCh37
NC_000013.9:g.19664815A= NCBI36
NG_008358.1:g.5300T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+107T= MANE Select ENSP00000372299.4:n.-23+107T=
ENST00000382848.4:c.-23+107T= ENSP00000372299.4:n.-23+107T=
NM_004004.5:c.-23+107T= NP_003995.2:n.-23+107T=
NM_004004.6:c.-23+107T= MANE Select NP_003995.2:n.-23+107T=
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