Canonical Allele Identifier: CA129449

Gene: GJC2

Linked Data

• ClinVar Variation Id: 30759
• ClinVar RCV Id: RCV000023738 ; RCV000633051 ; RCV001781305
• dbSNP Id: rs587776888
• gnomAD v4: 1-228149860-A-G
• MyVariant Identifiers: chr1:g.228337561A>G (hg19) ; chr1:g.228149860A>G (hg38)
• PubMed: PMID:8733901 ; PMID:18094336 ; PMID:20695017 ; PMID:21246605 ; PMID:27780564

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228149860A>G , CM000663.2:g.228149860A>G	GRCh38
NC_000001.10:g.228337561A>G , CM000663.1:g.228337561A>G	GRCh37
NC_000001.9:g.226404184A>G	NCBI36
NG_011838.1:g.5009A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366714.2:c.-167A>G	ENSP00000355675.2:n.-167A>G
NM_020435.3:c.-167A>G	NP_065168.2:n.-167A>G