Canonical Allele Identifier: CA2077110450
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959065543
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189725C>T , CM000675.2:g.20189725C>T GRCh38
NC_000013.10:g.20763864C>T , CM000675.1:g.20763864C>T GRCh37
NC_000013.9:g.19661864C>T NCBI36
NG_008358.1:g.8251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-144G>A ENSP00000372295.1:n.-144G>A
ENST00000382848.5:c.-22-122G>A MANE Select ENSP00000372299.4:n.-22-122G>A
ENST00000382844.1:c.-144G>A ENSP00000372295.1:n.-144G>A
ENST00000382848.4:c.-22-122G>A ENSP00000372299.4:n.-22-122G>A
NM_004004.5:c.-22-122G>A NP_003995.2:n.-22-122G>A
XM_011535049.1:c.-22-122G>A XP_011533351.1:n.-22-122G>A
XM_011535049.2:c.-22-122G>A XP_011533351.1:n.-22-122G>A
NM_004004.6:c.-22-122G>A MANE Select NP_003995.2:n.-22-122G>A
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