Canonical Allele Identifier: CA129449
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30759
dbSNP Id: rs587776888

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