Canonical Allele Identifier: CA6904248

Gene: GJB2

Linked Data

• dbSNP Id: rs749675121
• ExAC: 13:20763211 G / GT
• gnomAD v2: 13-20763211-G-GT
• gnomAD v4: 13-20189072-G-GT
• MyVariant Identifiers: chr13:g.20763211_20763212insT (hg19) ; chr13:g.20189072_20189073insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189074dup , CM000675.2:g.20189074dup	GRCh38
NC_000013.10:g.20763213dup , CM000675.1:g.20763213dup	GRCh37
NC_000013.9:g.19661213dup	NCBI36
NG_008358.1:g.8903dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.509dup	ENSP00000372295.1:p.Asn170LysfsTer?
ENST00000382848.5:c.509dup MANE Select	ENSP00000372299.4:p.Asn170LysfsTer?
ENST00000382844.1:c.509dup	ENSP00000372295.1:p.Asn170LysfsTer?
ENST00000382848.4:c.509dup	ENSP00000372299.4:p.Asn170LysfsTer?
NM_004004.5:c.509dup	NP_003995.2:p.Asn170LysfsTer?
XM_011535049.1:c.509dup	XP_011533351.1:p.Asn170LysfsTer?
XM_011535049.2:c.509dup	XP_011533351.1:p.Asn170LysfsTer?
NM_004004.6:c.509dup MANE Select	NP_003995.2:p.Asn170LysfsTer?