Canonical Allele Identifier: CA16041595
Gene: GJB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371766
dbSNP Id: rs1057517519

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189523A>G , CM000675.2:g.20189523A>G GRCh38
NC_000013.10:g.20763662A>G , CM000675.1:g.20763662A>G GRCh37
NC_000013.9:g.19661662A>G NCBI36
NG_008358.1:g.8453T>C

Transcript Alleles

HGVS Amino-acid change
NM_004004.5:c.59T>C VV NP_003995.2:p.Ile20Thr
XM_011535049.1:c.59T>C XP_011533351.1:p.Ile20Thr
XM_011535049.2:c.59T>C
NM_004004.6:c.59T>C VV MANE Preferred
ENST00000382844.1:c.59T>C ENSP00000372295.1:p.Ile20Thr
ENST00000382848.4:c.59T>C ENSP00000372299.4:p.Ile20Thr