Canonical Allele Identifier: CA2077137501
Gene: GJB2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187623A= , CM000675.2:g.20187623A= GRCh38
NC_000013.10:g.20761762A= , CM000675.1:g.20761762A= GRCh37
NC_000013.9:g.19659762A= NCBI36
NG_008358.1:g.10353T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1278T= ENSP00000372295.1:n.*1278T=
ENST00000382848.5:c.*1278T= MANE Select ENSP00000372299.4:n.*1278T=
ENST00000382844.1:c.*1278T= ENSP00000372295.1:n.*1278T=
ENST00000382848.4:c.*1278T= ENSP00000372299.4:n.*1278T=
NM_004004.5:c.*1278T= NP_003995.2:n.*1278T=
XM_011535049.1:c.*1278T= XP_011533351.1:n.*1278T=
XM_011535049.2:c.*1278T= XP_011533351.1:n.*1278T=
NM_004004.6:c.*1278T= MANE Select NP_003995.2:n.*1278T=
Search 100 bp 5'
Search 100 bp 3'