Canonical Allele Identifier: CA172240
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17002
ClinVar RCV Id: RCV000018525 RCV000146028 RCV000211778 RCV000255370 RCV000411010 RCV000515359 RCV000678864 RCV000844631 RCV001004398 RCV001112641 RCV001291329 RCV002247354 RCV002470712 RCV003388568
dbSNP Id: rs104894396
ExAC: 13:20763650 C / T
gnomAD v2: 13-20763650-C-T
gnomAD v3: 13-20189511-C-T
gnomAD v4: 13-20189511-C-T
MyVariant Identifiers: chr13:g.20763650C>T (hg19) chr13:g.20189511C>T (hg38)
ERepo: CA172240/MONDO:0019497/005
PubMed: PMID:9139825 PMID:11968091 PMID:12746422 PMID:12833397 PMID:14985372 PMID:15070423 PMID:15113126 PMID:15146474 PMID:16088916 PMID:16380907 PMID:18294064 PMID:18941476 PMID:24123366
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189511C>T , CM000675.2:g.20189511C>T GRCh38
NC_000013.10:g.20763650C>T , CM000675.1:g.20763650C>T GRCh37
NC_000013.9:g.19661650C>T NCBI36
NG_008358.1:g.8465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.71G>A ENSP00000372295.1:p.Trp24Ter
ENST00000382848.5:c.71G>A MANE Select ENSP00000372299.4:p.Trp24Ter
ENST00000382844.1:c.71G>A ENSP00000372295.1:p.Trp24Ter
ENST00000382848.4:c.71G>A ENSP00000372299.4:p.Trp24Ter
NM_004004.5:c.71G>A NP_003995.2:p.Trp24Ter
XM_011535049.1:c.71G>A XP_011533351.1:p.Trp24Ter
XM_011535049.2:c.71G>A XP_011533351.1:p.Trp24Ter
NM_004004.6:c.71G>A MANE Select NP_003995.2:p.Trp24Ter
Search 100 bp 5'
Search 100 bp 3'