Canonical Allele Identifier: CA6904202
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs754515919
ExAC: 13:20763004 GCTGT / G
gnomAD v2: 13-20763004-GCTGT-G
gnomAD v3: 13-20188865-GCTGT-G
gnomAD v4: 13-20188865-GCTGT-G
MyVariant Identifiers: chr13:g.20763005_20763008del (hg19) chr13:g.20188866_20188869del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188868_20188871del , CM000675.2:g.20188868_20188871del GRCh38
NC_000013.10:g.20763007_20763010del , CM000675.1:g.20763007_20763010del GRCh37
NC_000013.9:g.19661007_19661010del NCBI36
NG_008358.1:g.9107_9110del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*32_*35del ENSP00000372295.1:n.*32_*35del
ENST00000382848.5:c.*32_*35del MANE Select ENSP00000372299.4:n.*32_*35del
ENST00000382844.1:c.*32_*35del ENSP00000372295.1:n.*32_*35del
ENST00000382848.4:c.*32_*35del ENSP00000372299.4:n.*32_*35del
NM_004004.5:c.*32_*35del NP_003995.2:n.*32_*35del
XM_011535049.1:c.*32_*35del XP_011533351.1:n.*32_*35del
XM_011535049.2:c.*32_*35del XP_011533351.1:n.*32_*35del
NM_004004.6:c.*32_*35del MANE Select NP_003995.2:n.*32_*35del
Search 100 bp 5'
Search 100 bp 3'