Canonical Allele Identifier: CA483153753
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763433G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189294G>C , CM000675.2:g.20189294G>C GRCh38
NC_000013.10:g.20763433G>C , CM000675.1:g.20763433G>C GRCh37
NC_000013.9:g.19661433G>C NCBI36
NG_008358.1:g.8682C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.288C>G ENSP00000372295.1:p.Ala96=
ENST00000382848.5:c.288C>G MANE Select ENSP00000372299.4:p.Ala96=
ENST00000382844.1:c.288C>G ENSP00000372295.1:p.Ala96=
ENST00000382848.4:c.288C>G ENSP00000372299.4:p.Ala96=
NM_004004.5:c.288C>G NP_003995.2:p.Ala96=
XM_011535049.1:c.288C>G XP_011533351.1:p.Ala96=
XM_011535049.2:c.288C>G XP_011533351.1:p.Ala96=
NM_004004.6:c.288C>G MANE Select NP_003995.2:p.Ala96=