Canonical Allele Identifier: CA2730705334
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs2140434796

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796547A>G , CM000677.2:g.34796547A>G GRCh38
NC_000015.9:g.35088748A>G , CM000677.1:g.35088748A>G GRCh37
NC_000015.8:g.32876040A>G NCBI36
NG_007553.1:g.4180T>C , LRG_388:g.4180T>C

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13949A>G