Canonical Allele Identifier: CA4689903

Gene: EPHX2

Linked Data

• dbSNP Id: rs139234214
• ExAC: 8:27358495 C / A
• gnomAD v2: 8-27358495-C-A
• gnomAD v4: 8-27500978-C-A
• MyVariant Identifiers: chr8:g.27358495C>A (hg19) ; chr8:g.27500978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500978C>A , CM000670.2:g.27500978C>A	GRCh38
NC_000008.10:g.27358495C>A , CM000670.1:g.27358495C>A	GRCh37
NC_000008.9:g.27414412C>A	NCBI36
NG_012064.1:g.14851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.154C>A MANE Select	ENSP00000430269.1:p.Arg52=
ENST00000380476.7:c.-6C>A	ENSP00000369843.3:n.-6C>A
ENST00000517536.5:c.154C>A	ENSP00000428875.1:p.Arg52=
ENST00000518328.5:c.154C>A	ENSP00000430779.1:p.Arg52=
ENST00000518379.5:c.154C>A	ENSP00000427956.1:p.Arg52=
ENST00000520623.5:n.238C>A
ENST00000520666.1:n.166C>A
ENST00000521400.5:c.154C>A	ENSP00000430269.1:p.Arg52=
ENST00000521684.1:c.153C>A
ENST00000521780.5:c.-12-2626C>A	ENSP00000430302.1:n.-12-2626C>A
ENST00000523827.1:n.377C>A
NM_001256482.1:c.-6C>A	NP_001243411.1:n.-6C>A
NM_001256483.1:c.-12-2626C>A	NP_001243412.1:n.-12-2626C>A
NM_001256484.1:c.-6C>A	NP_001243413.1:n.-6C>A
NM_001979.5:c.154C>A	NP_001970.2:p.Arg52=
XM_017013199.1:c.154C>A	XP_016868688.1:p.Arg52=
XM_017013200.1:c.154C>A	XP_016868689.1:p.Arg52=
XR_001745491.1:n.212C>A
NM_001256482.2:c.-6C>A	NP_001243411.1:n.-6C>A
NM_001256483.2:c.-12-2626C>A	NP_001243412.1:n.-12-2626C>A
NM_001256484.2:c.-6C>A	NP_001243413.1:n.-6C>A
NM_001979.6:c.154C>A MANE Select	NP_001970.2:p.Arg52=