Canonical Allele Identifier: CA246461350
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs73156818
gnomAD v3: 13-20189783-A-T
gnomAD v4: 13-20189783-A-T
MyVariant Identifiers: chr13:g.20763922A>T (hg19) chr13:g.20189783A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189783A>T , CM000675.2:g.20189783A>T GRCh38
NC_000013.10:g.20763922A>T , CM000675.1:g.20763922A>T GRCh37
NC_000013.9:g.19661922A>T NCBI36
NG_008358.1:g.8193T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-22-180T>A MANE Select ENSP00000372299.4:n.-22-180T>A
ENST00000382848.4:c.-22-180T>A ENSP00000372299.4:n.-22-180T>A
NM_004004.5:c.-22-180T>A NP_003995.2:n.-22-180T>A
XM_011535049.1:c.-22-180T>A XP_011533351.1:n.-22-180T>A
XM_011535049.2:c.-22-180T>A XP_011533351.1:n.-22-180T>A
NM_004004.6:c.-22-180T>A MANE Select NP_003995.2:n.-22-180T>A
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