Canonical Allele Identifier: CA483154272
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763106C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188967C>T , CM000675.2:g.20188967C>T GRCh38
NC_000013.10:g.20763106C>T , CM000675.1:g.20763106C>T GRCh37
NC_000013.9:g.19661106C>T NCBI36
NG_008358.1:g.9009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.615G>A ENSP00000372295.1:p.Leu205=
ENST00000382848.5:c.615G>A MANE Select ENSP00000372299.4:p.Leu205=
ENST00000382844.1:c.615G>A ENSP00000372295.1:p.Leu205=
ENST00000382848.4:c.615G>A ENSP00000372299.4:p.Leu205=
NM_004004.5:c.615G>A NP_003995.2:p.Leu205=
XM_011535049.1:c.615G>A XP_011533351.1:p.Leu205=
XM_011535049.2:c.615G>A XP_011533351.1:p.Leu205=
NM_004004.6:c.615G>A MANE Select NP_003995.2:p.Leu205=