Canonical Allele Identifier: CA387460947
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763184G>T (hg19) chr13:g.20189045G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189045G>T , CM000675.2:g.20189045G>T GRCh38
NC_000013.10:g.20763184G>T , CM000675.1:g.20763184G>T GRCh37
NC_000013.9:g.19661184G>T NCBI36
NG_008358.1:g.8931C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.537C>A ENSP00000372295.1:p.Asp179Glu
ENST00000382848.5:c.537C>A MANE Select ENSP00000372299.4:p.Asp179Glu
ENST00000382844.1:c.537C>A ENSP00000372295.1:p.Asp179Glu
ENST00000382848.4:c.537C>A ENSP00000372299.4:p.Asp179Glu
NM_004004.5:c.537C>A NP_003995.2:p.Asp179Glu
XM_011535049.1:c.537C>A XP_011533351.1:p.Asp179Glu
XM_011535049.2:c.537C>A XP_011533351.1:p.Asp179Glu
NM_004004.6:c.537C>A MANE Select NP_003995.2:p.Asp179Glu
Search 100 bp 5'
Search 100 bp 3'