Canonical Allele Identifier: CA4689895

Gene: EPHX2

Linked Data

• dbSNP Id: rs749370691
• ExAC: 8:27358452 G / A
• gnomAD v2: 8-27358452-G-A
• gnomAD v4: 8-27500935-G-A
• MyVariant Identifiers: chr8:g.27358452G>A (hg19) ; chr8:g.27500935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500935G>A , CM000670.2:g.27500935G>A	GRCh38
NC_000008.10:g.27358452G>A , CM000670.1:g.27358452G>A	GRCh37
NC_000008.9:g.27414369G>A	NCBI36
NG_012064.1:g.14808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.111G>A MANE Select	ENSP00000430269.1:p.Leu37=
ENST00000380476.7:c.-20-29G>A	ENSP00000369843.3:n.-20-29G>A
ENST00000517536.5:c.111G>A	ENSP00000428875.1:p.Leu37=
ENST00000518328.5:c.111G>A	ENSP00000430779.1:p.Leu37=
ENST00000518379.5:c.111G>A	ENSP00000427956.1:p.Leu37=
ENST00000520623.5:n.195G>A
ENST00000520666.1:n.123G>A
ENST00000521400.5:c.111G>A	ENSP00000430269.1:p.Leu37=
ENST00000521684.1:c.110G>A
ENST00000521780.5:c.-12-2669G>A	ENSP00000430302.1:n.-12-2669G>A
ENST00000523827.1:n.334G>A
NM_001256482.1:c.-20-29G>A	NP_001243411.1:n.-20-29G>A
NM_001256483.1:c.-12-2669G>A	NP_001243412.1:n.-12-2669G>A
NM_001256484.1:c.-49G>A	NP_001243413.1:n.-49G>A
NM_001979.5:c.111G>A	NP_001970.2:p.Leu37=
XM_017013199.1:c.111G>A	XP_016868688.1:p.Leu37=
XM_017013200.1:c.111G>A	XP_016868689.1:p.Leu37=
XR_001745491.1:n.169G>A
NM_001256482.2:c.-20-29G>A	NP_001243411.1:n.-20-29G>A
NM_001256483.2:c.-12-2669G>A	NP_001243412.1:n.-12-2669G>A
NM_001256484.2:c.-49G>A	NP_001243413.1:n.-49G>A
NM_001979.6:c.111G>A MANE Select	NP_001970.2:p.Leu37=