Canonical Allele Identifier: CA370804724

Gene: EPHX2

Linked Data

• dbSNP Id: rs1813745386
• MyVariant Identifiers: chr8:g.27358498C>T (hg19) ; chr8:g.27500981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500981C>T , CM000670.2:g.27500981C>T	GRCh38
NC_000008.10:g.27358498C>T , CM000670.1:g.27358498C>T	GRCh37
NC_000008.9:g.27414415C>T	NCBI36
NG_012064.1:g.14854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.157C>T MANE Select	ENSP00000430269.1:p.Leu53Phe
ENST00000380476.7:c.-3C>T	ENSP00000369843.3:n.-3C>T
ENST00000517536.5:c.157C>T	ENSP00000428875.1:p.Leu53Phe
ENST00000518328.5:c.157C>T	ENSP00000430779.1:p.Leu53Phe
ENST00000518379.5:c.157C>T	ENSP00000427956.1:p.Leu53Phe
ENST00000520623.5:n.241C>T
ENST00000520666.1:n.169C>T
ENST00000521400.5:c.157C>T	ENSP00000430269.1:p.Leu53Phe
ENST00000521684.1:c.156C>T
ENST00000521780.5:c.-12-2623C>T	ENSP00000430302.1:n.-12-2623C>T
ENST00000523827.1:n.380C>T
NM_001256482.1:c.-3C>T	NP_001243411.1:n.-3C>T
NM_001256483.1:c.-12-2623C>T	NP_001243412.1:n.-12-2623C>T
NM_001256484.1:c.-3C>T	NP_001243413.1:n.-3C>T
NM_001979.5:c.157C>T	NP_001970.2:p.Leu53Phe
XM_017013199.1:c.157C>T	XP_016868688.1:p.Leu53Phe
XM_017013200.1:c.157C>T	XP_016868689.1:p.Leu53Phe
XR_001745491.1:n.215C>T
NM_001256482.2:c.-3C>T	NP_001243411.1:n.-3C>T
NM_001256483.2:c.-12-2623C>T	NP_001243412.1:n.-12-2623C>T
NM_001256484.2:c.-3C>T	NP_001243413.1:n.-3C>T
NM_001979.6:c.157C>T MANE Select	NP_001970.2:p.Leu53Phe