Canonical Allele Identifier: CA16621541
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424851
ClinVar RCV Id: RCV000487475
dbSNP Id: rs1064797088
MyVariant Identifiers: chr13:g.20763585C>T (hg19) chr13:g.20189446C>T (hg38)
PubMed: PMID:20301708
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189446C>T , CM000675.2:g.20189446C>T GRCh38
NC_000013.10:g.20763585C>T , CM000675.1:g.20763585C>T GRCh37
NC_000013.9:g.19661585C>T NCBI36
NG_008358.1:g.8530G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.136G>A ENSP00000372295.1:p.Asp46Asn
ENST00000382848.5:c.136G>A MANE Select ENSP00000372299.4:p.Asp46Asn
ENST00000382844.1:c.136G>A ENSP00000372295.1:p.Asp46Asn
ENST00000382848.4:c.136G>A ENSP00000372299.4:p.Asp46Asn
NM_004004.5:c.136G>A NP_003995.2:p.Asp46Asn
XM_011535049.1:c.136G>A XP_011533351.1:p.Asp46Asn
XM_011535049.2:c.136G>A XP_011533351.1:p.Asp46Asn
NM_004004.6:c.136G>A MANE Select NP_003995.2:p.Asp46Asn
Search 100 bp 5'
Search 100 bp 3'