Canonical Allele Identifier: CA2779504223

Gene: EPHX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500948del , CM000670.2:g.27500948del	GRCh38
NC_000008.10:g.27358465del , CM000670.1:g.27358465del	GRCh37
NC_000008.9:g.27414382del	NCBI36
NG_012064.1:g.14821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.124del MANE Select	ENSP00000430269.1:p.Gln42ArgfsTer13
ENST00000380476.7:c.-20-16del	ENSP00000369843.3:n.-20-16del
ENST00000517536.5:c.124del	ENSP00000428875.1:p.Gln42ArgfsTer13
ENST00000518328.5:c.124del	ENSP00000430779.1:p.Gln42ArgfsTer13
ENST00000518379.5:c.124del	ENSP00000427956.1:p.Gln42ArgfsTer13
ENST00000520623.5:n.208del
ENST00000520666.1:n.136del
ENST00000521400.5:c.124del	ENSP00000430269.1:p.Gln42ArgfsTer13
ENST00000521684.1:c.123del
ENST00000521780.5:c.-12-2656del	ENSP00000430302.1:n.-12-2656del
ENST00000523827.1:n.347del
NM_001256482.1:c.-20-16del	NP_001243411.1:n.-20-16del
NM_001256483.1:c.-12-2656del	NP_001243412.1:n.-12-2656del
NM_001256484.1:c.-36del	NP_001243413.1:n.-36del
NM_001979.5:c.124del	NP_001970.2:p.Gln42ArgfsTer13
XM_017013199.1:c.124del	XP_016868688.1:p.Gln42ArgfsTer13
XM_017013200.1:c.124del	XP_016868689.1:p.Gln42ArgfsTer13
XR_001745491.1:n.182del
NM_001256482.2:c.-20-16del	NP_001243411.1:n.-20-16del
NM_001256483.2:c.-12-2656del	NP_001243412.1:n.-12-2656del
NM_001256484.2:c.-36del	NP_001243413.1:n.-36del
NM_001979.6:c.124del MANE Select	NP_001970.2:p.Gln42ArgfsTer13