Canonical Allele Identifier: CA10643939
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 311361
ClinVar RCV Id: RCV000259251 RCV000323005 RCV000361433 RCV001683254
dbSNP Id: rs5030700
gnomAD v2: 13-20762109-G-A
gnomAD v3: 13-20187970-G-A
gnomAD v4: 13-20187970-G-A
MyVariant Identifiers: chr13:g.20762109G>A (hg19) chr13:g.20187970G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187970G>A , CM000675.2:g.20187970G>A GRCh38
NC_000013.10:g.20762109G>A , CM000675.1:g.20762109G>A GRCh37
NC_000013.9:g.19660109G>A NCBI36
NG_008358.1:g.10006C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*931C>T ENSP00000372295.1:n.*931C>T
ENST00000382848.5:c.*931C>T MANE Select ENSP00000372299.4:n.*931C>T
ENST00000382844.1:c.*931C>T ENSP00000372295.1:n.*931C>T
ENST00000382848.4:c.*931C>T ENSP00000372299.4:n.*931C>T
NM_004004.5:c.*931C>T NP_003995.2:n.*931C>T
XM_011535049.1:c.*931C>T XP_011533351.1:n.*931C>T
XM_011535049.2:c.*931C>T XP_011533351.1:n.*931C>T
NM_004004.6:c.*931C>T MANE Select NP_003995.2:n.*931C>T
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