Canonical Allele Identifier: CA172234
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17009
dbSNP Id: rs80338948

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189155G>A , CM000675.2:g.20189155G>A GRCh38
NC_000013.10:g.20763294G>A , CM000675.1:g.20763294G>A GRCh37
NC_000013.9:g.19661294G>A NCBI36
NG_008358.1:g.8821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.427C>T ENSP00000372295.1:p.Arg143Trp
ENST00000382848.5:c.427C>T MANE Select ENSP00000372299.4:p.Arg143Trp
ENST00000382844.1:c.427C>T ENSP00000372295.1:p.Arg143Trp
ENST00000382848.4:c.427C>T ENSP00000372299.4:p.Arg143Trp
NM_004004.5:c.427C>T NP_003995.2:p.Arg143Trp
XM_011535049.1:c.427C>T XP_011533351.1:p.Arg143Trp
XM_011535049.2:c.427C>T XP_011533351.1:p.Arg143Trp
NM_004004.6:c.427C>T MANE Select NP_003995.2:p.Arg143Trp