Canonical Allele Identifier: CA370804666

Gene: EPHX2

Linked Data

• gnomAD v4: 8-27500961-C-G
• MyVariant Identifiers: chr8:g.27358478C>G (hg19) ; chr8:g.27500961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500961C>G , CM000670.2:g.27500961C>G	GRCh38
NC_000008.10:g.27358478C>G , CM000670.1:g.27358478C>G	GRCh37
NC_000008.9:g.27414395C>G	NCBI36
NG_012064.1:g.14834C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.137C>G MANE Select	ENSP00000430269.1:p.Pro46Arg
ENST00000380476.7:c.-20-3C>G	ENSP00000369843.3:n.-20-3C>G
ENST00000517536.5:c.137C>G	ENSP00000428875.1:p.Pro46Arg
ENST00000518328.5:c.137C>G	ENSP00000430779.1:p.Pro46Arg
ENST00000518379.5:c.137C>G	ENSP00000427956.1:p.Pro46Arg
ENST00000520623.5:n.221C>G
ENST00000520666.1:n.149C>G
ENST00000521400.5:c.137C>G	ENSP00000430269.1:p.Pro46Arg
ENST00000521684.1:c.136C>G
ENST00000521780.5:c.-12-2643C>G	ENSP00000430302.1:n.-12-2643C>G
ENST00000523827.1:n.360C>G
NM_001256482.1:c.-20-3C>G	NP_001243411.1:n.-20-3C>G
NM_001256483.1:c.-12-2643C>G	NP_001243412.1:n.-12-2643C>G
NM_001256484.1:c.-23C>G	NP_001243413.1:n.-23C>G
NM_001979.5:c.137C>G	NP_001970.2:p.Pro46Arg
XM_017013199.1:c.137C>G	XP_016868688.1:p.Pro46Arg
XM_017013200.1:c.137C>G	XP_016868689.1:p.Pro46Arg
XR_001745491.1:n.195C>G
NM_001256482.2:c.-20-3C>G	NP_001243411.1:n.-20-3C>G
NM_001256483.2:c.-12-2643C>G	NP_001243412.1:n.-12-2643C>G
NM_001256484.2:c.-23C>G	NP_001243413.1:n.-23C>G
NM_001979.6:c.137C>G MANE Select	NP_001970.2:p.Pro46Arg