Canonical Allele Identifier: CA387462057
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189505G>T , CM000675.2:g.20189505G>T GRCh38
NC_000013.10:g.20763644G>T , CM000675.1:g.20763644G>T GRCh37
NC_000013.9:g.19661644G>T NCBI36
NG_008358.1:g.8471C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.77C>A ENSP00000372295.1:p.Thr26Asn
ENST00000382848.5:c.77C>A MANE Select ENSP00000372299.4:p.Thr26Asn
ENST00000382844.1:c.77C>A ENSP00000372295.1:p.Thr26Asn
ENST00000382848.4:c.77C>A ENSP00000372299.4:p.Thr26Asn
NM_004004.5:c.77C>A NP_003995.2:p.Thr26Asn
XM_011535049.1:c.77C>A XP_011533351.1:p.Thr26Asn
XM_011535049.2:c.77C>A XP_011533351.1:p.Thr26Asn
NM_004004.6:c.77C>A MANE Select NP_003995.2:p.Thr26Asn