Canonical Allele Identifier: CA2077139524
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189259T= , CM000675.2:g.20189259T= GRCh38
NC_000013.10:g.20763398T= , CM000675.1:g.20763398T= GRCh37
NC_000013.9:g.19661398T= NCBI36
NG_008358.1:g.8717A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.323A= ENSP00000372295.1:p.Lys108=
ENST00000382848.5:c.323A= MANE Select ENSP00000372299.4:p.Lys108=
ENST00000382844.1:c.323A= ENSP00000372295.1:p.Lys108=
ENST00000382848.4:c.323A= ENSP00000372299.4:p.Lys108=
NM_004004.5:c.323A= NP_003995.2:p.Lys108=
XM_011535049.1:c.323A= XP_011533351.1:p.Lys108=
XM_011535049.2:c.323A= XP_011533351.1:p.Lys108=
NM_004004.6:c.323A= MANE Select NP_003995.2:p.Lys108=