Canonical Allele Identifier: CA387461592
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763501T>A (hg19) chr13:g.20189362T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.220A>T ENSP00000372295.1:p.Ile74Phe
ENST00000382848.5:c.220A>T MANE Select ENSP00000372299.4:p.Ile74Phe
ENST00000382844.1:c.220A>T ENSP00000372295.1:p.Ile74Phe
ENST00000382848.4:c.220A>T ENSP00000372299.4:p.Ile74Phe
NM_004004.5:c.220A>T NP_003995.2:p.Ile74Phe
XM_011535049.1:c.220A>T XP_011533351.1:p.Ile74Phe
XM_011535049.2:c.220A>T XP_011533351.1:p.Ile74Phe
NM_004004.6:c.220A>T MANE Select NP_003995.2:p.Ile74Phe
Search 100 bp 5'
Search 100 bp 3'