Canonical Allele Identifier: CA174257538

Gene: EPHX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27538667A>G , CM000670.2:g.27538667A>G	GRCh38
NC_000008.10:g.27396184A>G , CM000670.1:g.27396184A>G	GRCh37
NC_000008.9:g.27452101A>G	NCBI36
NG_012064.1:g.52540A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001979.6:c.1251A>G MANE Select	NP_001970.2:p.Leu417=
ENST00000521400.6:c.1251A>G MANE Select	ENSP00000430269.1:p.Leu417=
NM_001256482.1:c.1092A>G	NP_001243411.1:p.Leu364=
NM_001256482.2:c.1092A>G	NP_001243411.1:p.Leu364=
NM_001256483.1:c.1053A>G	NP_001243412.1:p.Leu351=
NM_001256483.2:c.1053A>G	NP_001243412.1:p.Leu351=
NM_001256484.1:c.1092A>G	NP_001243413.1:p.Leu364=
NM_001256484.2:c.1092A>G	NP_001243413.1:p.Leu364=
NM_001979.5:c.1251A>G	NP_001970.2:p.Leu417=
ENST00000380476.7:c.1092A>G	ENSP00000369843.3:p.Leu364=
ENST00000517536.5:c.702A>G	ENSP00000428875.1:p.Leu234=
ENST00000518379.5:c.1155A>G	ENSP00000427956.1:p.Leu385=
ENST00000520623.5:n.1335A>G
ENST00000521400.5:c.1251A>G	ENSP00000430269.1:p.Leu417=
ENST00000521780.5:c.1053A>G	ENSP00000430302.1:p.Leu351=
XM_017013199.1:c.1128A>G	XP_016868688.1:p.Leu376=
XR_001745491.1:n.1309A>G