Canonical Allele Identifier: CA6904282
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 551991
ClinVar RCV Id: RCV000667174
dbSNP Id: rs779358271

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189264G>T , CM000675.2:g.20189264G>T GRCh38
NC_000013.10:g.20763403G>T , CM000675.1:g.20763403G>T GRCh37
NC_000013.9:g.19661403G>T NCBI36
NG_008358.1:g.8712C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.318C>A ENSP00000372295.1:p.Phe106Leu
ENST00000382848.5:c.318C>A MANE Select ENSP00000372299.4:p.Phe106Leu
ENST00000382844.1:c.318C>A ENSP00000372295.1:p.Phe106Leu
ENST00000382848.4:c.318C>A ENSP00000372299.4:p.Phe106Leu
NM_004004.5:c.318C>A NP_003995.2:p.Phe106Leu
XM_011535049.1:c.318C>A XP_011533351.1:p.Phe106Leu
XM_011535049.2:c.318C>A XP_011533351.1:p.Phe106Leu
NM_004004.6:c.318C>A MANE Select NP_003995.2:p.Phe106Leu