Canonical Allele Identifier: CA696361435
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1198710025
gnomAD v3: 13-20187929-A-AT
gnomAD v4: 13-20187929-A-AT
MyVariant Identifiers: chr13:g.20762068_20762069insT (hg19) chr13:g.20187929_20187930insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187930dup , CM000675.2:g.20187930dup GRCh38
NC_000013.10:g.20762069dup , CM000675.1:g.20762069dup GRCh37
NC_000013.9:g.19660069dup NCBI36
NG_008358.1:g.10046dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*971dup ENSP00000372295.1:n.*971dup
ENST00000382848.5:c.*971dup MANE Select ENSP00000372299.4:n.*971dup
ENST00000382844.1:c.*971dup ENSP00000372295.1:n.*971dup
ENST00000382848.4:c.*971dup ENSP00000372299.4:n.*971dup
NM_004004.5:c.*971dup NP_003995.2:n.*971dup
XM_011535049.1:c.*971dup XP_011533351.1:n.*971dup
XM_011535049.2:c.*971dup XP_011533351.1:n.*971dup
NM_004004.6:c.*971dup MANE Select NP_003995.2:n.*971dup
Search 100 bp 5'
Search 100 bp 3'