Canonical Allele Identifier: CA387460956
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1275901105
COSMIC: COSM6138979
MyVariant Identifiers: chr13:g.20763189C>T (hg19) chr13:g.20189050C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189050C>T , CM000675.2:g.20189050C>T GRCh38
NC_000013.10:g.20763189C>T , CM000675.1:g.20763189C>T GRCh37
NC_000013.9:g.19661189C>T NCBI36
NG_008358.1:g.8926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.532G>A ENSP00000372295.1:p.Val178Met
ENST00000382848.5:c.532G>A MANE Select ENSP00000372299.4:p.Val178Met
ENST00000382844.1:c.532G>A ENSP00000372295.1:p.Val178Met
ENST00000382848.4:c.532G>A ENSP00000372299.4:p.Val178Met
NM_004004.5:c.532G>A NP_003995.2:p.Val178Met
XM_011535049.1:c.532G>A XP_011533351.1:p.Val178Met
XM_011535049.2:c.532G>A XP_011533351.1:p.Val178Met
NM_004004.6:c.532G>A MANE Select NP_003995.2:p.Val178Met
Search 100 bp 5'
Search 100 bp 3'