Canonical Allele Identifier: CA6904214

Gene: GJB2

Linked Data

• dbSNP Id: rs776899164
• ExAC: 13:20763057 A / T
• gnomAD v2: 13-20763057-A-T
• gnomAD v4: 13-20188918-A-T
• MyVariant Identifiers: chr13:g.20763057A>T (hg19) ; chr13:g.20188918A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188918A>T , CM000675.2:g.20188918A>T	GRCh38
NC_000013.10:g.20763057A>T , CM000675.1:g.20763057A>T	GRCh37
NC_000013.9:g.19661057A>T	NCBI36
NG_008358.1:g.9058T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.664T>A	ENSP00000372295.1:p.Ser222Thr
ENST00000382848.5:c.664T>A MANE Select	ENSP00000372299.4:p.Ser222Thr
ENST00000382844.1:c.664T>A	ENSP00000372295.1:p.Ser222Thr
ENST00000382848.4:c.664T>A	ENSP00000372299.4:p.Ser222Thr
NM_004004.5:c.664T>A	NP_003995.2:p.Ser222Thr
XM_011535049.1:c.664T>A	XP_011533351.1:p.Ser222Thr
XM_011535049.2:c.664T>A	XP_011533351.1:p.Ser222Thr
NM_004004.6:c.664T>A MANE Select	NP_003995.2:p.Ser222Thr