Canonical Allele Identifier: CA608984146
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 623824
ClinVar RCV Id: RCV000761850
dbSNP Id: rs1290698257
gnomAD v2: 13-20763675-GTTTGTTCACACCCC-G
gnomAD v3: 13-20189536-GTTTGTTCACACCCC-G
gnomAD v4: 13-20189536-GTTTGTTCACACCCC-G
MyVariant Identifiers: chr13:g.20763676_20763689del (hg19) chr13:g.20189537_20189550del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189537_20189550del , CM000675.2:g.20189537_20189550del GRCh38
NC_000013.10:g.20763676_20763689del , CM000675.1:g.20763676_20763689del GRCh37
NC_000013.9:g.19661676_19661689del NCBI36
NG_008358.1:g.8426_8439del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.32_45del ENSP00000372295.1:p.Gly11AlafsTer?
ENST00000382848.5:c.32_45del MANE Select ENSP00000372299.4:p.Gly11AlafsTer?
ENST00000382844.1:c.32_45del ENSP00000372295.1:p.Gly11AlafsTer?
ENST00000382848.4:c.32_45del ENSP00000372299.4:p.Gly11AlafsTer?
NM_004004.5:c.32_45del NP_003995.2:p.Gly11AlafsTer?
XM_011535049.1:c.32_45del XP_011533351.1:p.Gly11AlafsTer?
XM_011535049.2:c.32_45del XP_011533351.1:p.Gly11AlafsTer?
NM_004004.6:c.32_45del MANE Select NP_003995.2:p.Gly11AlafsTer?
Search 100 bp 5'
Search 100 bp 3'