Canonical Allele Identifier: CA387462233
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 978417
ClinVar RCV Id: RCV001257046
dbSNP Id: rs1959063711
MyVariant Identifiers: chr13:g.20763692A>G (hg19) chr13:g.20189553A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189553A>G , CM000675.2:g.20189553A>G GRCh38
NC_000013.10:g.20763692A>G , CM000675.1:g.20763692A>G GRCh37
NC_000013.9:g.19661692A>G NCBI36
NG_008358.1:g.8423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.29T>C ENSP00000372295.1:p.Leu10Pro
ENST00000382848.5:c.29T>C MANE Select ENSP00000372299.4:p.Leu10Pro
ENST00000382844.1:c.29T>C ENSP00000372295.1:p.Leu10Pro
ENST00000382848.4:c.29T>C ENSP00000372299.4:p.Leu10Pro
NM_004004.5:c.29T>C NP_003995.2:p.Leu10Pro
XM_011535049.1:c.29T>C XP_011533351.1:p.Leu10Pro
XM_011535049.2:c.29T>C XP_011533351.1:p.Leu10Pro
NM_004004.6:c.29T>C MANE Select NP_003995.2:p.Leu10Pro
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