Canonical Allele Identifier: CA387460663
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 585322
ClinVar RCV Id: RCV000710320
dbSNP Id: rs773846324
gnomAD v4: 13-20188905-A-T
MyVariant Identifiers: chr13:g.20763044A>T (hg19) chr13:g.20188905A>T (hg38)
ERepo: CA387460663/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188905A>T , CM000675.2:g.20188905A>T GRCh38
NC_000013.10:g.20763044A>T , CM000675.1:g.20763044A>T GRCh37
NC_000013.9:g.19661044A>T NCBI36
NG_008358.1:g.9071T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.677T>A ENSP00000372295.1:p.Val226Asp
ENST00000382848.5:c.677T>A MANE Select ENSP00000372299.4:p.Val226Asp
ENST00000382844.1:c.677T>A ENSP00000372295.1:p.Val226Asp
ENST00000382848.4:c.677T>A ENSP00000372299.4:p.Val226Asp
NM_004004.5:c.677T>A NP_003995.2:p.Val226Asp
XM_011535049.1:c.677T>A XP_011533351.1:p.Val226Asp
XM_011535049.2:c.677T>A XP_011533351.1:p.Val226Asp
NM_004004.6:c.677T>A MANE Select NP_003995.2:p.Val226Asp
Search 100 bp 5'
Search 100 bp 3'