Canonical Allele Identifier: CA387461749
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339579
ClinVar RCV Id: RCV001824481
dbSNP Id: rs2137308512
MyVariant Identifiers: chr13:g.20763560T>C (hg19) chr13:g.20189421T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189421T>C , CM000675.2:g.20189421T>C GRCh38
NC_000013.10:g.20763560T>C , CM000675.1:g.20763560T>C GRCh37
NC_000013.9:g.19661560T>C NCBI36
NG_008358.1:g.8555A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.161A>G ENSP00000372295.1:p.Asn54Ser
ENST00000382848.5:c.161A>G MANE Select ENSP00000372299.4:p.Asn54Ser
ENST00000382844.1:c.161A>G ENSP00000372295.1:p.Asn54Ser
ENST00000382848.4:c.161A>G ENSP00000372299.4:p.Asn54Ser
NM_004004.5:c.161A>G NP_003995.2:p.Asn54Ser
XM_011535049.1:c.161A>G XP_011533351.1:p.Asn54Ser
XM_011535049.2:c.161A>G XP_011533351.1:p.Asn54Ser
NM_004004.6:c.161A>G MANE Select NP_003995.2:p.Asn54Ser
Search 100 bp 5'
Search 100 bp 3'