Canonical Allele Identifier: CA387461594
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189362T>G , CM000675.2:g.20189362T>G GRCh38
NC_000013.10:g.20763501T>G , CM000675.1:g.20763501T>G GRCh37
NC_000013.9:g.19661501T>G NCBI36
NG_008358.1:g.8614A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.220A>C ENSP00000372295.1:p.Ile74Leu
ENST00000382848.5:c.220A>C MANE Select ENSP00000372299.4:p.Ile74Leu
ENST00000382844.1:c.220A>C ENSP00000372295.1:p.Ile74Leu
ENST00000382848.4:c.220A>C ENSP00000372299.4:p.Ile74Leu
NM_004004.5:c.220A>C NP_003995.2:p.Ile74Leu
XM_011535049.1:c.220A>C XP_011533351.1:p.Ile74Leu
XM_011535049.2:c.220A>C XP_011533351.1:p.Ile74Leu
NM_004004.6:c.220A>C MANE Select NP_003995.2:p.Ile74Leu