Canonical Allele Identifier: CA387460990
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 590799
ClinVar RCV Id: RCV000721943 RCV001004778
dbSNP Id: rs1302739538
MyVariant Identifiers: chr13:g.20763205C>G (hg19) chr13:g.20189066C>G (hg38)
ERepo: CA387460990/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189066C>G , CM000675.2:g.20189066C>G GRCh38
NC_000013.10:g.20763205C>G , CM000675.1:g.20763205C>G GRCh37
NC_000013.9:g.19661205C>G NCBI36
NG_008358.1:g.8910G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.516G>C ENSP00000372295.1:p.Trp172Cys
ENST00000382848.5:c.516G>C MANE Select ENSP00000372299.4:p.Trp172Cys
ENST00000382844.1:c.516G>C ENSP00000372295.1:p.Trp172Cys
ENST00000382848.4:c.516G>C ENSP00000372299.4:p.Trp172Cys
NM_004004.5:c.516G>C NP_003995.2:p.Trp172Cys
XM_011535049.1:c.516G>C XP_011533351.1:p.Trp172Cys
XM_011535049.2:c.516G>C XP_011533351.1:p.Trp172Cys
NM_004004.6:c.516G>C MANE Select NP_003995.2:p.Trp172Cys
Search 100 bp 5'
Search 100 bp 3'