Canonical Allele Identifier: CA6904323
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 556318
ClinVar RCV Id: RCV000672312 RCV002298731 RCV002493110
dbSNP Id: rs374625633
ExAC: 13:20763633 T / C
gnomAD v2: 13-20763633-T-C
gnomAD v3: 13-20189494-T-C
gnomAD v4: 13-20189494-T-C
MyVariant Identifiers: chr13:g.20763633T>C (hg19) chr13:g.20189494T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189494T>C , CM000675.2:g.20189494T>C GRCh38
NC_000013.10:g.20763633T>C , CM000675.1:g.20763633T>C GRCh37
NC_000013.9:g.19661633T>C NCBI36
NG_008358.1:g.8482A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.88A>G ENSP00000372295.1:p.Ile30Val
ENST00000382848.5:c.88A>G MANE Select ENSP00000372299.4:p.Ile30Val
ENST00000382844.1:c.88A>G ENSP00000372295.1:p.Ile30Val
ENST00000382848.4:c.88A>G ENSP00000372299.4:p.Ile30Val
NM_004004.5:c.88A>G NP_003995.2:p.Ile30Val
XM_011535049.1:c.88A>G XP_011533351.1:p.Ile30Val
XM_011535049.2:c.88A>G XP_011533351.1:p.Ile30Val
NM_004004.6:c.88A>G MANE Select NP_003995.2:p.Ile30Val
Search 100 bp 5'
Search 100 bp 3'