Canonical Allele Identifier: CA16042821
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372771
ClinVar RCV Id: RCV000412967 RCV000666314
dbSNP Id: rs1057517976
gnomAD v3: 13-20189436-G-A
gnomAD v4: 13-20189436-G-A
MyVariant Identifiers: chr13:g.20763575G>A (hg19) chr13:g.20189436G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189436G>A , CM000675.2:g.20189436G>A GRCh38
NC_000013.10:g.20763575G>A , CM000675.1:g.20763575G>A GRCh37
NC_000013.9:g.19661575G>A NCBI36
NG_008358.1:g.8540C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.146C>T ENSP00000372295.1:p.Ala49Val
ENST00000382848.5:c.146C>T MANE Select ENSP00000372299.4:p.Ala49Val
ENST00000382844.1:c.146C>T ENSP00000372295.1:p.Ala49Val
ENST00000382848.4:c.146C>T ENSP00000372299.4:p.Ala49Val
NM_004004.5:c.146C>T NP_003995.2:p.Ala49Val
XM_011535049.1:c.146C>T XP_011533351.1:p.Ala49Val
XM_011535049.2:c.146C>T XP_011533351.1:p.Ala49Val
NM_004004.6:c.146C>T MANE Select NP_003995.2:p.Ala49Val
Search 100 bp 5'
Search 100 bp 3'