Canonical Allele Identifier: CA246459675
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs150217043
gnomAD v2: 13-20763071-T-C
gnomAD v3: 13-20188932-T-C
gnomAD v4: 13-20188932-T-C
MyVariant Identifiers: chr13:g.20763071T>C (hg19) chr13:g.20188932T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188932T>C , CM000675.2:g.20188932T>C GRCh38
NC_000013.10:g.20763071T>C , CM000675.1:g.20763071T>C GRCh37
NC_000013.9:g.19661071T>C NCBI36
NG_008358.1:g.9044A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.650A>G ENSP00000372295.1:p.Tyr217Cys
ENST00000382848.5:c.650A>G MANE Select ENSP00000372299.4:p.Tyr217Cys
ENST00000382844.1:c.650A>G ENSP00000372295.1:p.Tyr217Cys
ENST00000382848.4:c.650A>G ENSP00000372299.4:p.Tyr217Cys
NM_004004.5:c.650A>G NP_003995.2:p.Tyr217Cys
XM_011535049.1:c.650A>G XP_011533351.1:p.Tyr217Cys
XM_011535049.2:c.650A>G XP_011533351.1:p.Tyr217Cys
NM_004004.6:c.650A>G MANE Select NP_003995.2:p.Tyr217Cys
Search 100 bp 5'
Search 100 bp 3'