Canonical Allele Identifier: CA387461294

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763355T>A (hg19) ; chr13:g.20189216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189216T>A , CM000675.2:g.20189216T>A	GRCh38
NC_000013.10:g.20763355T>A , CM000675.1:g.20763355T>A	GRCh37
NC_000013.9:g.19661355T>A	NCBI36
NG_008358.1:g.8760A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.366A>T	ENSP00000372295.1:p.Lys122Asn
ENST00000382848.5:c.366A>T MANE Select	ENSP00000372299.4:p.Lys122Asn
ENST00000382844.1:c.366A>T	ENSP00000372295.1:p.Lys122Asn
ENST00000382848.4:c.366A>T	ENSP00000372299.4:p.Lys122Asn
NM_004004.5:c.366A>T	NP_003995.2:p.Lys122Asn
XM_011535049.1:c.366A>T	XP_011533351.1:p.Lys122Asn
XM_011535049.2:c.366A>T	XP_011533351.1:p.Lys122Asn
NM_004004.6:c.366A>T MANE Select	NP_003995.2:p.Lys122Asn