Canonical Allele Identifier: CA6904302
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs759905442
ExAC: 13:20763517 G / C
gnomAD v2: 13-20763517-G-C
gnomAD v3: 13-20189378-G-C
gnomAD v4: 13-20189378-G-C
MyVariant Identifiers: chr13:g.20763517G>C (hg19) chr13:g.20189378G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189378G>C , CM000675.2:g.20189378G>C GRCh38
NC_000013.10:g.20763517G>C , CM000675.1:g.20763517G>C GRCh37
NC_000013.9:g.19661517G>C NCBI36
NG_008358.1:g.8598C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.204C>G ENSP00000372295.1:p.Tyr68Ter
ENST00000382848.5:c.204C>G MANE Select ENSP00000372299.4:p.Tyr68Ter
ENST00000382844.1:c.204C>G ENSP00000372295.1:p.Tyr68Ter
ENST00000382848.4:c.204C>G ENSP00000372299.4:p.Tyr68Ter
NM_004004.5:c.204C>G NP_003995.2:p.Tyr68Ter
XM_011535049.1:c.204C>G XP_011533351.1:p.Tyr68Ter
XM_011535049.2:c.204C>G XP_011533351.1:p.Tyr68Ter
NM_004004.6:c.204C>G MANE Select NP_003995.2:p.Tyr68Ter
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