Canonical Allele Identifier: CA387461874
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs776267945
MyVariant Identifiers: chr13:g.20763593A>C (hg19) chr13:g.20189454A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189454A>C , CM000675.2:g.20189454A>C GRCh38
NC_000013.10:g.20763593A>C , CM000675.1:g.20763593A>C GRCh37
NC_000013.9:g.19661593A>C NCBI36
NG_008358.1:g.8522T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.128T>G ENSP00000372295.1:p.Val43Gly
ENST00000382848.5:c.128T>G MANE Select ENSP00000372299.4:p.Val43Gly
ENST00000382844.1:c.128T>G ENSP00000372295.1:p.Val43Gly
ENST00000382848.4:c.128T>G ENSP00000372299.4:p.Val43Gly
NM_004004.5:c.128T>G NP_003995.2:p.Val43Gly
XM_011535049.1:c.128T>G XP_011533351.1:p.Val43Gly
XM_011535049.2:c.128T>G XP_011533351.1:p.Val43Gly
NM_004004.6:c.128T>G MANE Select NP_003995.2:p.Val43Gly
Search 100 bp 5'
Search 100 bp 3'