Canonical Allele Identifier: CA387461257
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763335T>G (hg19) chr13:g.20189196T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189196T>G , CM000675.2:g.20189196T>G GRCh38
NC_000013.10:g.20763335T>G , CM000675.1:g.20763335T>G GRCh37
NC_000013.9:g.19661335T>G NCBI36
NG_008358.1:g.8780A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.386A>C ENSP00000372295.1:p.Glu129Ala
ENST00000382848.5:c.386A>C MANE Select ENSP00000372299.4:p.Glu129Ala
ENST00000382844.1:c.386A>C ENSP00000372295.1:p.Glu129Ala
ENST00000382848.4:c.386A>C ENSP00000372299.4:p.Glu129Ala
NM_004004.5:c.386A>C NP_003995.2:p.Glu129Ala
XM_011535049.1:c.386A>C XP_011533351.1:p.Glu129Ala
XM_011535049.2:c.386A>C XP_011533351.1:p.Glu129Ala
NM_004004.6:c.386A>C MANE Select NP_003995.2:p.Glu129Ala
Search 100 bp 5'
Search 100 bp 3'