Canonical Allele Identifier: CA2169215442
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891837394
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796548C>G , CM000677.2:g.34796548C>G GRCh38
NC_000015.9:g.35088749C>G , CM000677.1:g.35088749C>G GRCh37
NC_000015.8:g.32876041C>G NCBI36
NG_007553.1:g.4179G>C , LRG_388:g.4179G>C

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-13948C>G
Search 100 bp 5'
Search 100 bp 3'