Canonical Allele Identifier: CA134991
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44762
ClinVar RCV Id: RCV000037867 RCV000505516 RCV000711353 RCV002482994 RCV004541113
dbSNP Id: rs76838169
ExAC: 13:20763113 A / G
gnomAD v2: 13-20763113-A-G
gnomAD v3: 13-20188974-A-G
gnomAD v4: 13-20188974-A-G
MyVariant Identifiers: chr13:g.20763113A>G (hg19) chr13:g.20188974A>G (hg38)
PubMed: PMID:10607953 PMID:10633133 PMID:11438992
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188974A>G , CM000675.2:g.20188974A>G GRCh38
NC_000013.10:g.20763113A>G , CM000675.1:g.20763113A>G GRCh37
NC_000013.9:g.19661113A>G NCBI36
NG_008358.1:g.9002T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.608T>C ENSP00000372295.1:p.Ile203Thr
ENST00000382848.5:c.608T>C MANE Select ENSP00000372299.4:p.Ile203Thr
ENST00000382844.1:c.608T>C ENSP00000372295.1:p.Ile203Thr
ENST00000382848.4:c.608T>C ENSP00000372299.4:p.Ile203Thr
NM_004004.5:c.608T>C NP_003995.2:p.Ile203Thr
XM_011535049.1:c.608T>C XP_011533351.1:p.Ile203Thr
XM_011535049.2:c.608T>C XP_011533351.1:p.Ile203Thr
NM_004004.6:c.608T>C MANE Select NP_003995.2:p.Ile203Thr
Search 100 bp 5'
Search 100 bp 3'