Canonical Allele Identifier: CA387461527
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 631697
ClinVar RCV Id: RCV000778387 RCV001113900 RCV001113901 RCV001374648 RCV001784383 RCV003317365
dbSNP Id: rs1291519904
gnomAD v2: 13-20763464-G-C
gnomAD v4: 13-20189325-G-C
MyVariant Identifiers: chr13:g.20763464G>C (hg19) chr13:g.20189325G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189325G>C , CM000675.2:g.20189325G>C GRCh38
NC_000013.10:g.20763464G>C , CM000675.1:g.20763464G>C GRCh37
NC_000013.9:g.19661464G>C NCBI36
NG_008358.1:g.8651C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.257C>G ENSP00000372295.1:p.Thr86Arg
ENST00000382848.5:c.257C>G MANE Select ENSP00000372299.4:p.Thr86Arg
ENST00000382844.1:c.257C>G ENSP00000372295.1:p.Thr86Arg
ENST00000382848.4:c.257C>G ENSP00000372299.4:p.Thr86Arg
NM_004004.5:c.257C>G NP_003995.2:p.Thr86Arg
XM_011535049.1:c.257C>G XP_011533351.1:p.Thr86Arg
XM_011535049.2:c.257C>G XP_011533351.1:p.Thr86Arg
NM_004004.6:c.257C>G MANE Select NP_003995.2:p.Thr86Arg
Search 100 bp 5'
Search 100 bp 3'