Canonical Allele Identifier: CA2695217715
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2574620
ClinVar RCV Id: RCV003493993
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189371_20189377dup , CM000675.2:g.20189371_20189377dup GRCh38
NC_000013.10:g.20763510_20763516dup , CM000675.1:g.20763510_20763516dup GRCh37
NC_000013.9:g.19661510_19661516dup NCBI36
NG_008358.1:g.8600_8606dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.206_212dup ENSP00000372295.1:p.Ser72ProfsTer32
ENST00000382848.5:c.206_212dup MANE Select ENSP00000372299.4:p.Ser72ProfsTer32
ENST00000382844.1:c.206_212dup ENSP00000372295.1:p.Ser72ProfsTer32
ENST00000382848.4:c.206_212dup ENSP00000372299.4:p.Ser72ProfsTer32
NM_004004.5:c.206_212dup NP_003995.2:p.Ser72ProfsTer32
XM_011535049.1:c.206_212dup XP_011533351.1:p.Ser72ProfsTer32
XM_011535049.2:c.206_212dup XP_011533351.1:p.Ser72ProfsTer32
NM_004004.6:c.206_212dup MANE Select NP_003995.2:p.Ser72ProfsTer32
Search 100 bp 5'
Search 100 bp 3'