Canonical Allele Identifier: CA387460893
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429984
ClinVar RCV Id: RCV000493772 RCV001004776
dbSNP Id: rs1131691709
gnomAD v2: 13-20763158-T-C
gnomAD v3: 13-20189019-T-C
gnomAD v4: 13-20189019-T-C
MyVariant Identifiers: chr13:g.20763158T>C (hg19) chr13:g.20189019T>C (hg38)
PubMed: PMID:17666888 PMID:23967136 PMID:25388846
ERepo: CA387460893/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189019T>C , CM000675.2:g.20189019T>C GRCh38
NC_000013.10:g.20763158T>C , CM000675.1:g.20763158T>C GRCh37
NC_000013.9:g.19661158T>C NCBI36
NG_008358.1:g.8957A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.563A>G ENSP00000372295.1:p.Lys188Arg
ENST00000382848.5:c.563A>G MANE Select ENSP00000372299.4:p.Lys188Arg
ENST00000382844.1:c.563A>G ENSP00000372295.1:p.Lys188Arg
ENST00000382848.4:c.563A>G ENSP00000372299.4:p.Lys188Arg
NM_004004.5:c.563A>G NP_003995.2:p.Lys188Arg
XM_011535049.1:c.563A>G XP_011533351.1:p.Lys188Arg
XM_011535049.2:c.563A>G XP_011533351.1:p.Lys188Arg
NM_004004.6:c.563A>G MANE Select NP_003995.2:p.Lys188Arg
Search 100 bp 5'
Search 100 bp 3'