Canonical Allele Identifier: CA387460893
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429984
dbSNP Id: rs1131691709

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189019T>C , CM000675.2:g.20189019T>C GRCh38
NC_000013.10:g.20763158T>C , CM000675.1:g.20763158T>C GRCh37
NC_000013.9:g.19661158T>C NCBI36
NG_008358.1:g.8957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.563A>G ENSP00000372295.1:p.Lys188Arg
ENST00000382848.5:c.563A>G MANE Select ENSP00000372299.4:p.Lys188Arg
ENST00000382844.1:c.563A>G ENSP00000372295.1:p.Lys188Arg
ENST00000382848.4:c.563A>G ENSP00000372299.4:p.Lys188Arg
NM_004004.5:c.563A>G NP_003995.2:p.Lys188Arg
XM_011535049.1:c.563A>G XP_011533351.1:p.Lys188Arg
XM_011535049.2:c.563A>G XP_011533351.1:p.Lys188Arg
NM_004004.6:c.563A>G MANE Select NP_003995.2:p.Lys188Arg