Canonical Allele Identifier: CA234087
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 167134
dbSNP Id: rs104894409

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189332C>A , CM000675.2:g.20189332C>A GRCh38
NC_000013.10:g.20763471C>A , CM000675.1:g.20763471C>A GRCh37
NC_000013.9:g.19661471C>A NCBI36
NG_008358.1:g.8644G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.250G>T ENSP00000372295.1:p.Val84Leu
ENST00000382848.5:c.250G>T MANE Select ENSP00000372299.4:p.Val84Leu
ENST00000382844.1:c.250G>T ENSP00000372295.1:p.Val84Leu
ENST00000382848.4:c.250G>T ENSP00000372299.4:p.Val84Leu
NM_004004.5:c.250G>T NP_003995.2:p.Val84Leu
XM_011535049.1:c.250G>T XP_011533351.1:p.Val84Leu
XM_011535049.2:c.250G>T XP_011533351.1:p.Val84Leu
NM_004004.6:c.250G>T MANE Select NP_003995.2:p.Val84Leu