Canonical Allele Identifier: CA6904352
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496216
ClinVar RCV Id: RCV000586692 RCV001834857
dbSNP Id: rs778602324
ExAC: 13:20763760 A / T
gnomAD v2: 13-20763760-A-T
gnomAD v3: 13-20189621-A-T
gnomAD v4: 13-20189621-A-T
MyVariant Identifiers: chr13:g.20763760A>T (hg19) chr13:g.20189621A>T (hg38)
PubMed: PMID:17041943
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189621A>T , CM000675.2:g.20189621A>T GRCh38
NC_000013.10:g.20763760A>T , CM000675.1:g.20763760A>T GRCh37
NC_000013.9:g.19661760A>T NCBI36
NG_008358.1:g.8355T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-40T>A ENSP00000372295.1:n.-40T>A
ENST00000382848.5:c.-22-18T>A MANE Select ENSP00000372299.4:n.-22-18T>A
ENST00000382844.1:c.-40T>A ENSP00000372295.1:n.-40T>A
ENST00000382848.4:c.-22-18T>A ENSP00000372299.4:n.-22-18T>A
NM_004004.5:c.-22-18T>A NP_003995.2:n.-22-18T>A
XM_011535049.1:c.-22-18T>A XP_011533351.1:n.-22-18T>A
XM_011535049.2:c.-22-18T>A XP_011533351.1:n.-22-18T>A
NM_004004.6:c.-22-18T>A MANE Select NP_003995.2:n.-22-18T>A
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