Canonical Allele Identifier: CA387461043
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449488
dbSNP Id: rs1273330603

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189094A>G , CM000675.2:g.20189094A>G GRCh38
NC_000013.10:g.20763233A>G , CM000675.1:g.20763233A>G GRCh37
NC_000013.9:g.19661233A>G NCBI36
NG_008358.1:g.8882T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.488T>C ENSP00000372295.1:p.Met163Thr
ENST00000382848.5:c.488T>C MANE Select ENSP00000372299.4:p.Met163Thr
ENST00000382844.1:c.488T>C ENSP00000372295.1:p.Met163Thr
ENST00000382848.4:c.488T>C ENSP00000372299.4:p.Met163Thr
NM_004004.5:c.488T>C NP_003995.2:p.Met163Thr
XM_011535049.1:c.488T>C XP_011533351.1:p.Met163Thr
XM_011535049.2:c.488T>C XP_011533351.1:p.Met163Thr
NM_004004.6:c.488T>C MANE Select NP_003995.2:p.Met163Thr