Canonical Allele Identifier: CA912980097
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763481dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189342dup , CM000675.2:g.20189342dup GRCh38
NC_000013.10:g.20763481dup , CM000675.1:g.20763481dup GRCh37
NC_000013.9:g.19661481dup NCBI36
NG_008358.1:g.8634dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.240dup ENSP00000372295.1:p.Leu81AlafsTer21
ENST00000382848.5:c.240dup MANE Select ENSP00000372299.4:p.Leu81AlafsTer21
ENST00000382844.1:c.240dup ENSP00000372295.1:p.Leu81AlafsTer21
ENST00000382848.4:c.240dup ENSP00000372299.4:p.Leu81AlafsTer21
NM_004004.5:c.240dup NP_003995.2:p.Leu81AlafsTer21
XM_011535049.1:c.240dup XP_011533351.1:p.Leu81AlafsTer21
XM_011535049.2:c.240dup XP_011533351.1:p.Leu81AlafsTer21
NM_004004.6:c.240dup MANE Select NP_003995.2:p.Leu81AlafsTer21