Canonical Allele Identifier: CA2077110561
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189820T= , CM000675.2:g.20189820T= GRCh38
NC_000013.10:g.20763959T= , CM000675.1:g.20763959T= GRCh37
NC_000013.9:g.19661959T= NCBI36
NG_008358.1:g.8156A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-22-217A= MANE Select ENSP00000372299.4:n.-22-217A=
ENST00000382848.4:c.-22-217A= ENSP00000372299.4:n.-22-217A=
NM_004004.5:c.-22-217A= NP_003995.2:n.-22-217A=
XM_011535049.1:c.-22-217A= XP_011533351.1:n.-22-217A=
XM_011535049.2:c.-22-217A= XP_011533351.1:n.-22-217A=
NM_004004.6:c.-22-217A= MANE Select NP_003995.2:n.-22-217A=