Canonical Allele Identifier: CA617197780

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1468689968
• gnomAD v2: 15-35088757-A-G
• gnomAD v3: 15-34796556-A-G
• gnomAD v4: 15-34796556-A-G
• MyVariant Identifiers: chr15:g.35088757A>G (hg19) ; chr15:g.34796556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796556A>G , CM000677.2:g.34796556A>G	GRCh38
NC_000015.9:g.35088757A>G , CM000677.1:g.35088757A>G	GRCh37
NC_000015.8:g.32876049A>G	NCBI36
NG_007553.1:g.4171T>C , LRG_388:g.4171T>C

Transcript Alleles

HGVS	Amino-acid change
NR_120329.1:n.300-13940A>G