Canonical Allele Identifier: CA387462268
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763705G>T (hg19) chr13:g.20189566G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189566G>T , CM000675.2:g.20189566G>T GRCh38
NC_000013.10:g.20763705G>T , CM000675.1:g.20763705G>T GRCh37
NC_000013.9:g.19661705G>T NCBI36
NG_008358.1:g.8410C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.16C>A ENSP00000372295.1:p.Leu6Met
ENST00000382848.5:c.16C>A MANE Select ENSP00000372299.4:p.Leu6Met
ENST00000382844.1:c.16C>A ENSP00000372295.1:p.Leu6Met
ENST00000382848.4:c.16C>A ENSP00000372299.4:p.Leu6Met
NM_004004.5:c.16C>A NP_003995.2:p.Leu6Met
XM_011535049.1:c.16C>A XP_011533351.1:p.Leu6Met
XM_011535049.2:c.16C>A XP_011533351.1:p.Leu6Met
NM_004004.6:c.16C>A MANE Select NP_003995.2:p.Leu6Met
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