Canonical Allele Identifier: CA483154250
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763085A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188946A>G , CM000675.2:g.20188946A>G GRCh38
NC_000013.10:g.20763085A>G , CM000675.1:g.20763085A>G GRCh37
NC_000013.9:g.19661085A>G NCBI36
NG_008358.1:g.9030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.636T>C ENSP00000372295.1:p.Tyr212=
ENST00000382848.5:c.636T>C MANE Select ENSP00000372299.4:p.Tyr212=
ENST00000382844.1:c.636T>C ENSP00000372295.1:p.Tyr212=
ENST00000382848.4:c.636T>C ENSP00000372299.4:p.Tyr212=
NM_004004.5:c.636T>C NP_003995.2:p.Tyr212=
XM_011535049.1:c.636T>C XP_011533351.1:p.Tyr212=
XM_011535049.2:c.636T>C XP_011533351.1:p.Tyr212=
NM_004004.6:c.636T>C MANE Select NP_003995.2:p.Tyr212=