Canonical Allele Identifier: CA370809396

Gene: EPHX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27506924G>C , CM000670.2:g.27506924G>C	GRCh38
NC_000008.10:g.27364441G>C , CM000670.1:g.27364441G>C	GRCh37
NC_000008.9:g.27420358G>C	NCBI36
NG_012064.1:g.20797G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001979.6:c.590G>C MANE Select	NP_001970.2:p.Gly197Ala
ENST00000521400.6:c.590G>C MANE Select	ENSP00000430269.1:p.Gly197Ala
NM_001256482.1:c.431G>C	NP_001243411.1:p.Gly144Ala
NM_001256482.2:c.431G>C	NP_001243411.1:p.Gly144Ala
NM_001256483.1:c.392G>C	NP_001243412.1:p.Gly131Ala
NM_001256483.2:c.392G>C	NP_001243412.1:p.Gly131Ala
NM_001256484.1:c.431G>C	NP_001243413.1:p.Gly144Ala
NM_001256484.2:c.431G>C	NP_001243413.1:p.Gly144Ala
NM_001979.5:c.590G>C	NP_001970.2:p.Gly197Ala
ENST00000380476.7:c.431G>C	ENSP00000369843.3:p.Gly144Ala
ENST00000517536.5:c.186+5914G>C	ENSP00000428875.1:n.186+5914G>C
ENST00000518379.5:c.590G>C	ENSP00000427956.1:p.Gly197Ala
ENST00000520623.5:n.674G>C
ENST00000521400.5:c.590G>C	ENSP00000430269.1:p.Gly197Ala
ENST00000521684.1:c.536+1778G>C
ENST00000521780.5:c.392G>C	ENSP00000430302.1:p.Gly131Ala
ENST00000521924.1:n.153G>C
XM_017013199.1:c.537+1778G>C	XP_016868688.1:n.537+1778G>C
XM_017013200.1:c.590G>C	XP_016868689.1:p.Gly197Ala
XR_001745491.1:n.648G>C