Canonical Allele Identifier: CA2589948633
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs2137312216
gnomAD v3: 13-20192800-G-A
gnomAD v4: 13-20192800-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192800G>A , CM000675.2:g.20192800G>A GRCh38
NC_000013.10:g.20766939G>A , CM000675.1:g.20766939G>A GRCh37
NC_000013.9:g.19664939G>A NCBI36
NG_008358.1:g.5176C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-40C>T MANE Select ENSP00000372299.4:n.-40C>T
ENST00000382848.4:c.-40C>T ENSP00000372299.4:n.-40C>T
NM_004004.5:c.-40C>T NP_003995.2:n.-40C>T
NM_004004.6:c.-40C>T MANE Select NP_003995.2:n.-40C>T
Search 100 bp 5'
Search 100 bp 3'