Canonical Allele Identifier: CA354398

Gene: GJB2

Linked Data

• PubMed: PMID:9529365 ; PMID:10607953 ; PMID:10983956 ; PMID:17666888 ; PMID:20083784 ; PMID:20201936 ; PMID:20668687 ; PMID:21298213 ; PMID:23826813

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.[20189241T>C;20189503C>T] , CM000675.2:g.[20189241T>C;20189503C>T]	GRCh38
NC_000013.10:g.[20763380T>C;20763642C>T] , CM000675.1:g.[20763380T>C;20763642C>T]	GRCh37
NC_000013.9:g.[19661380T>C;19661642C>T]	NCBI36
NG_008358.1:g.[8473G>A;8735A>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.[79G>A;341A>G]	ENSP00000372295.1:p.[Val27Ile;Glu114Gly]
ENST00000382848.5:c.[79G>A;341A>G] MANE Select	ENSP00000372299.4:p.[Val27Ile;Glu114Gly]
ENST00000382844.1:c.[79G>A;341A>G]	ENSP00000372295.1:p.[Val27Ile;Glu114Gly]
ENST00000382848.4:c.[79G>A;341A>G]	ENSP00000372299.4:p.[Val27Ile;Glu114Gly]
NM_004004.5:c.[79G>A;341A>G]	NP_003995.2:p.[Val27Ile;Glu114Gly]
XM_011535049.1:c.[79G>A;341A>G]	XP_011533351.1:p.[Val27Ile;Glu114Gly]
XM_011535049.2:c.[79G>A;341A>G]	XP_011533351.1:p.[Val27Ile;Glu114Gly]
NM_004004.6:c.[79G>A;341A>G] MANE Select	NP_003995.2:p.[Val27Ile;Glu114Gly]