Canonical Allele Identifier: CA2581125592
Gene: GJB2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188790G>T , CM000675.2:g.20188790G>T GRCh38
NC_000013.10:g.20762929G>T , CM000675.1:g.20762929G>T GRCh37
NC_000013.9:g.19660929G>T NCBI36
NG_008358.1:g.9186C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*111C>A ENSP00000372295.1:n.*111C>A
ENST00000382848.5:c.*111C>A MANE Select ENSP00000372299.4:n.*111C>A
ENST00000382844.1:c.*111C>A ENSP00000372295.1:n.*111C>A
ENST00000382848.4:c.*111C>A ENSP00000372299.4:n.*111C>A
NM_004004.5:c.*111C>A NP_003995.2:n.*111C>A
XM_011535049.1:c.*111C>A XP_011533351.1:n.*111C>A
XM_011535049.2:c.*111C>A XP_011533351.1:n.*111C>A
NM_004004.6:c.*111C>A MANE Select NP_003995.2:n.*111C>A
Search 100 bp 5'
Search 100 bp 3'