Canonical Allele Identifier: CA246461410
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs371582829
gnomAD v2: 13-20763993-T-C
gnomAD v3: 13-20189854-T-C
gnomAD v4: 13-20189854-T-C
MyVariant Identifiers: chr13:g.20763993T>C (hg19) chr13:g.20189854T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189854T>C , CM000675.2:g.20189854T>C GRCh38
NC_000013.10:g.20763993T>C , CM000675.1:g.20763993T>C GRCh37
NC_000013.9:g.19661993T>C NCBI36
NG_008358.1:g.8122A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-22-251A>G MANE Select ENSP00000372299.4:n.-22-251A>G
ENST00000382848.4:c.-22-251A>G ENSP00000372299.4:n.-22-251A>G
NM_004004.5:c.-22-251A>G NP_003995.2:n.-22-251A>G
XM_011535049.1:c.-22-251A>G XP_011533351.1:n.-22-251A>G
XM_011535049.2:c.-22-251A>G XP_011533351.1:n.-22-251A>G
NM_004004.6:c.-22-251A>G MANE Select NP_003995.2:n.-22-251A>G
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