Canonical Allele Identifier: CA134944
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44719
ClinVar RCV Id: RCV000037807
dbSNP Id: rs397516867
gnomAD v3: 13-20192790-G-A
gnomAD v4: 13-20192790-G-A
MyVariant Identifiers: chr13:g.20766929G>A (hg19) chr13:g.20192790G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192790G>A , CM000675.2:g.20192790G>A GRCh38
NC_000013.10:g.20766929G>A , CM000675.1:g.20766929G>A GRCh37
NC_000013.9:g.19664929G>A NCBI36
NG_008358.1:g.5186C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-30C>T MANE Select ENSP00000372299.4:n.-30C>T
ENST00000382848.4:c.-30C>T ENSP00000372299.4:n.-30C>T
NM_004004.5:c.-30C>T NP_003995.2:n.-30C>T
NM_004004.6:c.-30C>T MANE Select NP_003995.2:n.-30C>T
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