ClinGen Allele Registry
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Canonical Allele Identifier:
CA174273230
Gene: EPHX2
HGNC
NCBI
Linked Data
dbSNP Id:
rs17057381
gnomAD v2:
8-27416801-G-A
gnomAD v3:
8-27559284-G-A
gnomAD v4:
8-27559284-G-A
MyVariant Identifiers:
chr8:g.27416801G>A (hg19)
chr8:g.27559284G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.27559284G>A , CM000670.2:g.27559284G>A
GRCh38
NC_000008.10:g.27416801G>A , CM000670.1:g.27416801G>A
GRCh37
NC_000008.9:g.27472718G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745491.1:n.1647+15040G>A
Search 100 bp 5'
Search 100 bp 3'