Canonical Allele Identifier: CA370813909

Gene: EPHX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27516348G>T , CM000670.2:g.27516348G>T	GRCh38
NC_000008.10:g.27373865G>T , CM000670.1:g.27373865G>T	GRCh37
NC_000008.9:g.27429782G>T	NCBI36
NG_012064.1:g.30221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.860G>T MANE Select	ENSP00000430269.1:p.Arg287Leu
ENST00000380476.7:c.701G>T	ENSP00000369843.3:p.Arg234Leu
ENST00000517536.5:c.311G>T	ENSP00000428875.1:p.Arg104Leu
ENST00000518379.5:c.764G>T	ENSP00000427956.1:p.Arg255Leu
ENST00000520623.5:n.944G>T
ENST00000521400.5:c.860G>T	ENSP00000430269.1:p.Arg287Leu
ENST00000521684.1:c.736G>T
ENST00000521780.5:c.662G>T	ENSP00000430302.1:p.Arg221Leu
ENST00000523326.1:n.380G>T
NM_001256482.1:c.701G>T	NP_001243411.1:p.Arg234Leu
NM_001256483.1:c.662G>T	NP_001243412.1:p.Arg221Leu
NM_001256484.1:c.701G>T	NP_001243413.1:p.Arg234Leu
NM_001979.5:c.860G>T	NP_001970.2:p.Arg287Leu
XM_017013199.1:c.737G>T	XP_016868688.1:p.Arg246Leu
XR_001745491.1:n.918G>T
NM_001256482.2:c.701G>T	NP_001243411.1:p.Arg234Leu
NM_001256483.2:c.662G>T	NP_001243412.1:p.Arg221Leu
NM_001256484.2:c.701G>T	NP_001243413.1:p.Arg234Leu
NM_001979.6:c.860G>T MANE Select	NP_001970.2:p.Arg287Leu