Canonical Allele Identifier: CA2077114363
Gene: GJB2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192640G= , CM000675.2:g.20192640G= GRCh38
NC_000013.10:g.20766779G= , CM000675.1:g.20766779G= GRCh37
NC_000013.9:g.19664779G= NCBI36
NG_008358.1:g.5336C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+143C= MANE Select ENSP00000372299.4:n.-23+143C=
ENST00000382848.4:c.-23+143C= ENSP00000372299.4:n.-23+143C=
NM_004004.5:c.-23+143C= NP_003995.2:n.-23+143C=
NM_004004.6:c.-23+143C= MANE Select NP_003995.2:n.-23+143C=
Search 100 bp 5'
Search 100 bp 3'