Canonical Allele Identifier: CA12757819
Gene: EPHX2 HGNC NCBI
COSMIC:
COSN17601163 (not active)
MyVariant.info:
GRCh38 chr8:g.27557959C>T
GRCh37 chr8:g.27415476C>T
gnomAD v2:
8:27415476 C / T
gnomAD v3:
8:27557959 C / T
gnomAD v4:
chr8-27557959-C-T
Joint Max Group AF 0.65063494 (AMR)
Genomes Max Group AF 0.65063494 (AMR)
dbSNP:
2741354
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27557959C>T , CM000670.2:g.27557959C>T GRCh38
NC_000008.10:g.27415476C>T , CM000670.1:g.27415476C>T GRCh37
NC_000008.9:g.27471393C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745491.1:n.1647+13715C>T
Search 100 bp 5'
Search 100 bp 3'