Canonical Allele Identifier: CA2730705318
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs2140434762

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796475C>T , CM000677.2:g.34796475C>T GRCh38
NC_000015.9:g.35088676C>T , CM000677.1:g.35088676C>T GRCh37
NC_000015.8:g.32875968C>T NCBI36
NG_007553.1:g.4252G>A , LRG_388:g.4252G>A

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-14021C>T