Canonical Allele Identifier: CA172240
Gene: GJB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17002
dbSNP Id: rs104894396

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189511C>T , CM000675.2:g.20189511C>T GRCh38
NC_000013.10:g.20763650C>T , CM000675.1:g.20763650C>T GRCh37
NC_000013.9:g.19661650C>T NCBI36
NG_008358.1:g.8465G>A

Transcript Alleles

HGVS Amino-acid change
NM_004004.5:c.71G>A VV NP_003995.2:p.Trp24Ter
XM_011535049.1:c.71G>A XP_011533351.1:p.Trp24Ter
XM_011535049.2:c.71G>A
ENST00000382844.1:c.71G>A ENSP00000372295.1:p.Trp24Ter
ENST00000382848.4:c.71G>A ENSP00000372299.4:p.Trp24Ter