Canonical Allele Identifier: CA6904274
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs779018464
ExAC: 13:20763332 C / T
gnomAD v2: 13-20763332-C-T
gnomAD v4: 13-20189193-C-T
MyVariant Identifiers: chr13:g.20763332C>T (hg19) chr13:g.20189193C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189193C>T , CM000675.2:g.20189193C>T GRCh38
NC_000013.10:g.20763332C>T , CM000675.1:g.20763332C>T GRCh37
NC_000013.9:g.19661332C>T NCBI36
NG_008358.1:g.8783G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.389G>A ENSP00000372295.1:p.Gly130Asp
ENST00000382848.5:c.389G>A MANE Select ENSP00000372299.4:p.Gly130Asp
ENST00000382844.1:c.389G>A ENSP00000372295.1:p.Gly130Asp
ENST00000382848.4:c.389G>A ENSP00000372299.4:p.Gly130Asp
NM_004004.5:c.389G>A NP_003995.2:p.Gly130Asp
XM_011535049.1:c.389G>A XP_011533351.1:p.Gly130Asp
XM_011535049.2:c.389G>A XP_011533351.1:p.Gly130Asp
NM_004004.6:c.389G>A MANE Select NP_003995.2:p.Gly130Asp
Search 100 bp 5'
Search 100 bp 3'