Canonical Allele Identifier: CA127030
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17027
dbSNP Id: rs28931593

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189358C>T , CM000675.2:g.20189358C>T GRCh38
NC_000013.10:g.20763497C>T , CM000675.1:g.20763497C>T GRCh37
NC_000013.9:g.19661497C>T NCBI36
NG_008358.1:g.8618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.224G>A ENSP00000372295.1:p.Arg75Gln
ENST00000382848.5:c.224G>A MANE Select ENSP00000372299.4:p.Arg75Gln
ENST00000382844.1:c.224G>A ENSP00000372295.1:p.Arg75Gln
ENST00000382848.4:c.224G>A ENSP00000372299.4:p.Arg75Gln
NM_004004.5:c.224G>A NP_003995.2:p.Arg75Gln
XM_011535049.1:c.224G>A XP_011533351.1:p.Arg75Gln
XM_011535049.2:c.224G>A XP_011533351.1:p.Arg75Gln
NM_004004.6:c.224G>A MANE Select NP_003995.2:p.Arg75Gln