Canonical Allele Identifier: CA387461590
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 992241
ClinVar RCV Id: RCV001280636
dbSNP Id: rs1959060919
COSMIC: COSM6291780
MyVariant Identifiers: chr13:g.20763500A>G (hg19) chr13:g.20189361A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189361A>G , CM000675.2:g.20189361A>G GRCh38
NC_000013.10:g.20763500A>G , CM000675.1:g.20763500A>G GRCh37
NC_000013.9:g.19661500A>G NCBI36
NG_008358.1:g.8615T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.221T>C ENSP00000372295.1:p.Ile74Thr
ENST00000382848.5:c.221T>C MANE Select ENSP00000372299.4:p.Ile74Thr
ENST00000382844.1:c.221T>C ENSP00000372295.1:p.Ile74Thr
ENST00000382848.4:c.221T>C ENSP00000372299.4:p.Ile74Thr
NM_004004.5:c.221T>C NP_003995.2:p.Ile74Thr
XM_011535049.1:c.221T>C XP_011533351.1:p.Ile74Thr
XM_011535049.2:c.221T>C XP_011533351.1:p.Ile74Thr
NM_004004.6:c.221T>C MANE Select NP_003995.2:p.Ile74Thr
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