Canonical Allele Identifier: CA460046993

Gene: EPHX2

Linked Data

• dbSNP Id: rs1486849055
• gnomAD v2: 8-27358450-C-T
• MyVariant Identifiers: chr8:g.27358450C>T (hg19) ; chr8:g.27500933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500933C>T , CM000670.2:g.27500933C>T	GRCh38
NC_000008.10:g.27358450C>T , CM000670.1:g.27358450C>T	GRCh37
NC_000008.9:g.27414367C>T	NCBI36
NG_012064.1:g.14806C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.109C>T MANE Select	ENSP00000430269.1:p.Leu37=
ENST00000380476.7:c.-20-31C>T	ENSP00000369843.3:n.-20-31C>T
ENST00000517536.5:c.109C>T	ENSP00000428875.1:p.Leu37=
ENST00000518328.5:c.109C>T	ENSP00000430779.1:p.Leu37=
ENST00000518379.5:c.109C>T	ENSP00000427956.1:p.Leu37=
ENST00000520623.5:n.193C>T
ENST00000520666.1:n.121C>T
ENST00000521400.5:c.109C>T	ENSP00000430269.1:p.Leu37=
ENST00000521684.1:c.108C>T
ENST00000521780.5:c.-12-2671C>T	ENSP00000430302.1:n.-12-2671C>T
ENST00000523827.1:n.332C>T
NM_001256482.1:c.-20-31C>T	NP_001243411.1:n.-20-31C>T
NM_001256483.1:c.-12-2671C>T	NP_001243412.1:n.-12-2671C>T
NM_001256484.1:c.-51C>T	NP_001243413.1:n.-51C>T
NM_001979.5:c.109C>T	NP_001970.2:p.Leu37=
XM_017013199.1:c.109C>T	XP_016868688.1:p.Leu37=
XM_017013200.1:c.109C>T	XP_016868689.1:p.Leu37=
XR_001745491.1:n.167C>T
NM_001256482.2:c.-20-31C>T	NP_001243411.1:n.-20-31C>T
NM_001256483.2:c.-12-2671C>T	NP_001243412.1:n.-12-2671C>T
NM_001256484.2:c.-51C>T	NP_001243413.1:n.-51C>T
NM_001979.6:c.109C>T MANE Select	NP_001970.2:p.Leu37=