Canonical Allele Identifier: CA387461389
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.323A>T ENSP00000372295.1:p.Lys108Met
ENST00000382848.5:c.323A>T MANE Select ENSP00000372299.4:p.Lys108Met
ENST00000382844.1:c.323A>T ENSP00000372295.1:p.Lys108Met
ENST00000382848.4:c.323A>T ENSP00000372299.4:p.Lys108Met
NM_004004.5:c.323A>T NP_003995.2:p.Lys108Met
XM_011535049.1:c.323A>T XP_011533351.1:p.Lys108Met
XM_011535049.2:c.323A>T XP_011533351.1:p.Lys108Met
NM_004004.6:c.323A>T MANE Select NP_003995.2:p.Lys108Met