Canonical Allele Identifier: CA387460748

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763085A>T (hg19) ; chr13:g.20188946A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.636T>A	ENSP00000372295.1:p.Tyr212Ter
ENST00000382848.5:c.636T>A MANE Select	ENSP00000372299.4:p.Tyr212Ter
ENST00000382844.1:c.636T>A	ENSP00000372295.1:p.Tyr212Ter
ENST00000382848.4:c.636T>A	ENSP00000372299.4:p.Tyr212Ter
NM_004004.5:c.636T>A	NP_003995.2:p.Tyr212Ter
XM_011535049.1:c.636T>A	XP_011533351.1:p.Tyr212Ter
XM_011535049.2:c.636T>A	XP_011533351.1:p.Tyr212Ter
NM_004004.6:c.636T>A MANE Select	NP_003995.2:p.Tyr212Ter