Canonical Allele Identifier: CA246459600

Gene: GJB2

Linked Data

• dbSNP Id: rs576671031
• gnomAD v2: 13-20762962-T-A
• gnomAD v3: 13-20188823-T-A
• gnomAD v4: 13-20188823-T-A
• MyVariant Identifiers: chr13:g.20762962T>A (hg19) ; chr13:g.20188823T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188823T>A , CM000675.2:g.20188823T>A	GRCh38
NC_000013.10:g.20762962T>A , CM000675.1:g.20762962T>A	GRCh37
NC_000013.9:g.19660962T>A	NCBI36
NG_008358.1:g.9153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*78A>T	ENSP00000372295.1:n.*78A>T
ENST00000382848.5:c.*78A>T MANE Select	ENSP00000372299.4:n.*78A>T
ENST00000382844.1:c.*78A>T	ENSP00000372295.1:n.*78A>T
ENST00000382848.4:c.*78A>T	ENSP00000372299.4:n.*78A>T
NM_004004.5:c.*78A>T	NP_003995.2:n.*78A>T
XM_011535049.1:c.*78A>T	XP_011533351.1:n.*78A>T
XM_011535049.2:c.*78A>T	XP_011533351.1:n.*78A>T
NM_004004.6:c.*78A>T MANE Select	NP_003995.2:n.*78A>T