Canonical Allele Identifier: CA387461372
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1316789942
gnomAD v2: 13-20763389-A-G
gnomAD v3: 13-20189250-A-G
gnomAD v4: 13-20189250-A-G
MyVariant Identifiers: chr13:g.20763389A>G (hg19) chr13:g.20189250A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189250A>G , CM000675.2:g.20189250A>G GRCh38
NC_000013.10:g.20763389A>G , CM000675.1:g.20763389A>G GRCh37
NC_000013.9:g.19661389A>G NCBI36
NG_008358.1:g.8726T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.332T>C ENSP00000372295.1:p.Ile111Thr
ENST00000382848.5:c.332T>C MANE Select ENSP00000372299.4:p.Ile111Thr
ENST00000382844.1:c.332T>C ENSP00000372295.1:p.Ile111Thr
ENST00000382848.4:c.332T>C ENSP00000372299.4:p.Ile111Thr
NM_004004.5:c.332T>C NP_003995.2:p.Ile111Thr
XM_011535049.1:c.332T>C XP_011533351.1:p.Ile111Thr
XM_011535049.2:c.332T>C XP_011533351.1:p.Ile111Thr
NM_004004.6:c.332T>C MANE Select NP_003995.2:p.Ile111Thr
Search 100 bp 5'
Search 100 bp 3'