Canonical Allele Identifier: CA370804575

Gene: EPHX2

Linked Data

• dbSNP Id: rs1232427768
• gnomAD v4: 8-27500942-G-A
• MyVariant Identifiers: chr8:g.27358459G>A (hg19) ; chr8:g.27500942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500942G>A , CM000670.2:g.27500942G>A	GRCh38
NC_000008.10:g.27358459G>A , CM000670.1:g.27358459G>A	GRCh37
NC_000008.9:g.27414376G>A	NCBI36
NG_012064.1:g.14815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.118G>A MANE Select	ENSP00000430269.1:p.Ala40Thr
ENST00000380476.7:c.-20-22G>A	ENSP00000369843.3:n.-20-22G>A
ENST00000517536.5:c.118G>A	ENSP00000428875.1:p.Ala40Thr
ENST00000518328.5:c.118G>A	ENSP00000430779.1:p.Ala40Thr
ENST00000518379.5:c.118G>A	ENSP00000427956.1:p.Ala40Thr
ENST00000520623.5:n.202G>A
ENST00000520666.1:n.130G>A
ENST00000521400.5:c.118G>A	ENSP00000430269.1:p.Ala40Thr
ENST00000521684.1:c.117G>A
ENST00000521780.5:c.-12-2662G>A	ENSP00000430302.1:n.-12-2662G>A
ENST00000523827.1:n.341G>A
NM_001256482.1:c.-20-22G>A	NP_001243411.1:n.-20-22G>A
NM_001256483.1:c.-12-2662G>A	NP_001243412.1:n.-12-2662G>A
NM_001256484.1:c.-42G>A	NP_001243413.1:n.-42G>A
NM_001979.5:c.118G>A	NP_001970.2:p.Ala40Thr
XM_017013199.1:c.118G>A	XP_016868688.1:p.Ala40Thr
XM_017013200.1:c.118G>A	XP_016868689.1:p.Ala40Thr
XR_001745491.1:n.176G>A
NM_001256482.2:c.-20-22G>A	NP_001243411.1:n.-20-22G>A
NM_001256483.2:c.-12-2662G>A	NP_001243412.1:n.-12-2662G>A
NM_001256484.2:c.-42G>A	NP_001243413.1:n.-42G>A
NM_001979.6:c.118G>A MANE Select	NP_001970.2:p.Ala40Thr