Canonical Allele Identifier: CA460047027

Gene: EPHX2

Linked Data

• MyVariant Identifiers: chr8:g.27358500T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500983T>C , CM000670.2:g.27500983T>C	GRCh38
NC_000008.10:g.27358500T>C , CM000670.1:g.27358500T>C	GRCh37
NC_000008.9:g.27414417T>C	NCBI36
NG_012064.1:g.14856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.159T>C MANE Select	ENSP00000430269.1:p.Leu53=
ENST00000380476.7:c.-1T>C	ENSP00000369843.3:n.-1T>C
ENST00000517536.5:c.159T>C	ENSP00000428875.1:p.Leu53=
ENST00000518328.5:c.159T>C	ENSP00000430779.1:p.Leu53=
ENST00000518379.5:c.159T>C	ENSP00000427956.1:p.Leu53=
ENST00000520623.5:n.243T>C
ENST00000520666.1:n.171T>C
ENST00000521400.5:c.159T>C	ENSP00000430269.1:p.Leu53=
ENST00000521684.1:c.158T>C
ENST00000521780.5:c.-12-2621T>C	ENSP00000430302.1:n.-12-2621T>C
ENST00000523827.1:n.382T>C
NM_001256482.1:c.-1T>C	NP_001243411.1:n.-1T>C
NM_001256483.1:c.-12-2621T>C	NP_001243412.1:n.-12-2621T>C
NM_001256484.1:c.-1T>C	NP_001243413.1:n.-1T>C
NM_001979.5:c.159T>C	NP_001970.2:p.Leu53=
XM_017013199.1:c.159T>C	XP_016868688.1:p.Leu53=
XM_017013200.1:c.159T>C	XP_016868689.1:p.Leu53=
XR_001745491.1:n.217T>C
NM_001256482.2:c.-1T>C	NP_001243411.1:n.-1T>C
NM_001256483.2:c.-12-2621T>C	NP_001243412.1:n.-12-2621T>C
NM_001256484.2:c.-1T>C	NP_001243413.1:n.-1T>C
NM_001979.6:c.159T>C MANE Select	NP_001970.2:p.Leu53=