Canonical Allele Identifier: CA617197779

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1466554217
• gnomAD v2: 15-35088704-G-C
• MyVariant Identifiers: chr15:g.35088704G>C (hg19) ; chr15:g.34796503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796503G>C , CM000677.2:g.34796503G>C	GRCh38
NC_000015.9:g.35088704G>C , CM000677.1:g.35088704G>C	GRCh37
NC_000015.8:g.32875996G>C	NCBI36
NG_007553.1:g.4224C>G , LRG_388:g.4224C>G

Transcript Alleles

HGVS	Amino-acid Change
NR_120329.1:n.300-13993G>C