Canonical Allele Identifier: CA127024
Gene: GJB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17012
dbSNP Id: rs104894403

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189386C>G , CM000675.2:g.20189386C>G GRCh38
NC_000013.10:g.20763525C>G , CM000675.1:g.20763525C>G GRCh37
NC_000013.9:g.19661525C>G NCBI36
NG_008358.1:g.8590G>C

Transcript Alleles

HGVS Amino-acid change
NM_004004.5:c.196G>C VV NP_003995.2:p.Asp66His
XM_011535049.1:c.196G>C XP_011533351.1:p.Asp66His
XM_011535049.2:c.196G>C XP_011533351.1:p.Asp66His
NM_004004.6:c.196G>C VV MANE Preferred NP_003995.2:p.Asp66His
ENST00000382844.1:c.196G>C ENSP00000372295.1:p.Asp66His
ENST00000382848.4:c.196G>C ENSP00000372299.4:p.Asp66His