Canonical Allele Identifier: CA6904338
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs774642294
ExAC: 13:20763723 T / C
gnomAD v2: 13-20763723-T-C
gnomAD v4: 13-20189584-T-C
MyVariant Identifiers: chr13:g.20763723T>C (hg19) chr13:g.20189584T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189584T>C , CM000675.2:g.20189584T>C GRCh38
NC_000013.10:g.20763723T>C , CM000675.1:g.20763723T>C GRCh37
NC_000013.9:g.19661723T>C NCBI36
NG_008358.1:g.8392A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-3A>G ENSP00000372295.1:n.-3A>G
ENST00000382848.5:c.-3A>G MANE Select ENSP00000372299.4:n.-3A>G
ENST00000382844.1:c.-3A>G ENSP00000372295.1:n.-3A>G
ENST00000382848.4:c.-3A>G ENSP00000372299.4:n.-3A>G
NM_004004.5:c.-3A>G NP_003995.2:n.-3A>G
XM_011535049.1:c.-3A>G XP_011533351.1:n.-3A>G
XM_011535049.2:c.-3A>G XP_011533351.1:n.-3A>G
NM_004004.6:c.-3A>G MANE Select NP_003995.2:n.-3A>G
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