Canonical Allele Identifier: CA172206
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17000
dbSNP Id: rs35887622

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189481A>G , CM000675.2:g.20189481A>G GRCh38
NC_000013.10:g.20763620A>G , CM000675.1:g.20763620A>G GRCh37
NC_000013.9:g.19661620A>G NCBI36
NG_008358.1:g.8495T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.101T>C ENSP00000372295.1:p.Met34Thr
ENST00000382848.5:c.101T>C MANE Select ENSP00000372299.4:p.Met34Thr
ENST00000382844.1:c.101T>C ENSP00000372295.1:p.Met34Thr
ENST00000382848.4:c.101T>C ENSP00000372299.4:p.Met34Thr
NM_004004.5:c.101T>C NP_003995.2:p.Met34Thr
XM_011535049.1:c.101T>C XP_011533351.1:p.Met34Thr
XM_011535049.2:c.101T>C XP_011533351.1:p.Met34Thr
NM_004004.6:c.101T>C MANE Select NP_003995.2:p.Met34Thr