Canonical Allele Identifier: CA2077138303
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959052629
gnomAD v4: 13-20188592-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188592T>G , CM000675.2:g.20188592T>G GRCh38
NC_000013.10:g.20762731T>G , CM000675.1:g.20762731T>G GRCh37
NC_000013.9:g.19660731T>G NCBI36
NG_008358.1:g.9384A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*309A>C ENSP00000372295.1:n.*309A>C
ENST00000382848.5:c.*309A>C MANE Select ENSP00000372299.4:n.*309A>C
ENST00000382844.1:c.*309A>C ENSP00000372295.1:n.*309A>C
ENST00000382848.4:c.*309A>C ENSP00000372299.4:n.*309A>C
NM_004004.5:c.*309A>C NP_003995.2:n.*309A>C
XM_011535049.1:c.*309A>C XP_011533351.1:n.*309A>C
XM_011535049.2:c.*309A>C XP_011533351.1:n.*309A>C
NM_004004.6:c.*309A>C MANE Select NP_003995.2:n.*309A>C
Search 100 bp 5'
Search 100 bp 3'