Canonical Allele Identifier: CA6904272
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1357104
ClinVar RCV Id: RCV001870431
dbSNP Id: rs771409330
ExAC: 13:20763313 G / GT
gnomAD v2: 13-20763313-G-GT
gnomAD v3: 13-20189174-G-GT
gnomAD v4: 13-20189174-G-GT
MyVariant Identifiers: chr13:g.20763313_20763314insT (hg19) chr13:g.20189174_20189175insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189175dup , CM000675.2:g.20189175dup GRCh38
NC_000013.10:g.20763314dup , CM000675.1:g.20763314dup GRCh37
NC_000013.9:g.19661314dup NCBI36
NG_008358.1:g.8801dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.407dup ENSP00000372295.1:p.Tyr136Ter
ENST00000382848.5:c.407dup MANE Select ENSP00000372299.4:p.Tyr136Ter
ENST00000382844.1:c.407dup ENSP00000372295.1:p.Tyr136Ter
ENST00000382848.4:c.407dup ENSP00000372299.4:p.Tyr136Ter
NM_004004.5:c.407dup NP_003995.2:p.Tyr136Ter
XM_011535049.1:c.407dup XP_011533351.1:p.Tyr136Ter
XM_011535049.2:c.407dup XP_011533351.1:p.Tyr136Ter
NM_004004.6:c.407dup MANE Select NP_003995.2:p.Tyr136Ter
Search 100 bp 5'
Search 100 bp 3'