Canonical Allele Identifier: CA2730705331
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs2140434784

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796513T>C , CM000677.2:g.34796513T>C GRCh38
NC_000015.9:g.35088714T>C , CM000677.1:g.35088714T>C GRCh37
NC_000015.8:g.32876006T>C NCBI36
NG_007553.1:g.4214A>G , LRG_388:g.4214A>G

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13983T>C