Canonical Allele Identifier: CA2686682380

Gene: EPHX2

Linked Data

• gnomAD v4: 8-27501066-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27501066C>A , CM000670.2:g.27501066C>A	GRCh38
NC_000008.10:g.27358583C>A , CM000670.1:g.27358583C>A	GRCh37
NC_000008.9:g.27414500C>A	NCBI36
NG_012064.1:g.14939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.186+56C>A MANE Select	ENSP00000430269.1:n.186+56C>A
ENST00000380476.7:c.27+56C>A	ENSP00000369843.3:n.27+56C>A
ENST00000517536.5:c.186+56C>A	ENSP00000428875.1:n.186+56C>A
ENST00000518328.5:c.186+56C>A	ENSP00000430779.1:n.186+56C>A
ENST00000518379.5:c.186+56C>A	ENSP00000427956.1:n.186+56C>A
ENST00000520623.5:n.270+56C>A
ENST00000520666.1:n.198+56C>A
ENST00000521400.5:c.186+56C>A	ENSP00000430269.1:n.186+56C>A
ENST00000521684.1:c.185+56C>A
ENST00000521780.5:c.-12-2538C>A	ENSP00000430302.1:n.-12-2538C>A
ENST00000523827.1:n.409+56C>A
NM_001256482.1:c.27+56C>A	NP_001243411.1:n.27+56C>A
NM_001256483.1:c.-12-2538C>A	NP_001243412.1:n.-12-2538C>A
NM_001256484.1:c.27+56C>A	NP_001243413.1:n.27+56C>A
NM_001979.5:c.186+56C>A	NP_001970.2:n.186+56C>A
XM_017013199.1:c.186+56C>A	XP_016868688.1:n.186+56C>A
XM_017013200.1:c.186+56C>A	XP_016868689.1:n.186+56C>A
XR_001745491.1:n.244+56C>A
NM_001256482.2:c.27+56C>A	NP_001243411.1:n.27+56C>A
NM_001256483.2:c.-12-2538C>A	NP_001243412.1:n.-12-2538C>A
NM_001256484.2:c.27+56C>A	NP_001243413.1:n.27+56C>A
NM_001979.6:c.186+56C>A MANE Select	NP_001970.2:n.186+56C>A