Canonical Allele Identifier: CA387460746

Gene: GJB2

Linked Data

• dbSNP Id: rs1959055197
• gnomAD v4: 13-20188945-A-T
• MyVariant Identifiers: chr13:g.20763084A>T (hg19) ; chr13:g.20188945A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188945A>T , CM000675.2:g.20188945A>T	GRCh38
NC_000013.10:g.20763084A>T , CM000675.1:g.20763084A>T	GRCh37
NC_000013.9:g.19661084A>T	NCBI36
NG_008358.1:g.9031T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.637T>A	ENSP00000372295.1:p.Leu213Met
ENST00000382848.5:c.637T>A MANE Select	ENSP00000372299.4:p.Leu213Met
ENST00000382844.1:c.637T>A	ENSP00000372295.1:p.Leu213Met
ENST00000382848.4:c.637T>A	ENSP00000372299.4:p.Leu213Met
NM_004004.5:c.637T>A	NP_003995.2:p.Leu213Met
XM_011535049.1:c.637T>A	XP_011533351.1:p.Leu213Met
XM_011535049.2:c.637T>A	XP_011533351.1:p.Leu213Met
NM_004004.6:c.637T>A MANE Select	NP_003995.2:p.Leu213Met