Canonical Allele Identifier: CA387462101
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189516C>G , CM000675.2:g.20189516C>G GRCh38
NC_000013.10:g.20763655C>G , CM000675.1:g.20763655C>G GRCh37
NC_000013.9:g.19661655C>G NCBI36
NG_008358.1:g.8460G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.66G>C ENSP00000372295.1:p.Lys22Asn
ENST00000382848.5:c.66G>C MANE Select ENSP00000372299.4:p.Lys22Asn
ENST00000382844.1:c.66G>C ENSP00000372295.1:p.Lys22Asn
ENST00000382848.4:c.66G>C ENSP00000372299.4:p.Lys22Asn
NM_004004.5:c.66G>C NP_003995.2:p.Lys22Asn
XM_011535049.1:c.66G>C XP_011533351.1:p.Lys22Asn
XM_011535049.2:c.66G>C XP_011533351.1:p.Lys22Asn
NM_004004.6:c.66G>C MANE Select NP_003995.2:p.Lys22Asn