Canonical Allele Identifier: CA387461036
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189092G>T , CM000675.2:g.20189092G>T GRCh38
NC_000013.10:g.20763231G>T , CM000675.1:g.20763231G>T GRCh37
NC_000013.9:g.19661231G>T NCBI36
NG_008358.1:g.8884C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.490C>A ENSP00000372295.1:p.Gln164Lys
ENST00000382848.5:c.490C>A MANE Select ENSP00000372299.4:p.Gln164Lys
ENST00000382844.1:c.490C>A ENSP00000372295.1:p.Gln164Lys
ENST00000382848.4:c.490C>A ENSP00000372299.4:p.Gln164Lys
NM_004004.5:c.490C>A NP_003995.2:p.Gln164Lys
XM_011535049.1:c.490C>A XP_011533351.1:p.Gln164Lys
XM_011535049.2:c.490C>A XP_011533351.1:p.Gln164Lys
NM_004004.6:c.490C>A MANE Select NP_003995.2:p.Gln164Lys