Canonical Allele Identifier: CA387461068
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 560668
ClinVar RCV Id: RCV002287436
dbSNP Id: rs375759781
MyVariant Identifiers: chr13:g.20763247G>C (hg19) chr13:g.20189108G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189108G>C , CM000675.2:g.20189108G>C GRCh38
NC_000013.10:g.20763247G>C , CM000675.1:g.20763247G>C GRCh37
NC_000013.9:g.19661247G>C NCBI36
NG_008358.1:g.8868C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.474C>G ENSP00000372295.1:p.Tyr158Ter
ENST00000382848.5:c.474C>G MANE Select ENSP00000372299.4:p.Tyr158Ter
ENST00000382844.1:c.474C>G ENSP00000372295.1:p.Tyr158Ter
ENST00000382848.4:c.474C>G ENSP00000372299.4:p.Tyr158Ter
NM_004004.5:c.474C>G NP_003995.2:p.Tyr158Ter
XM_011535049.1:c.474C>G XP_011533351.1:p.Tyr158Ter
XM_011535049.2:c.474C>G XP_011533351.1:p.Tyr158Ter
NM_004004.6:c.474C>G MANE Select NP_003995.2:p.Tyr158Ter
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