Canonical Allele Identifier: CA580663017

Gene: EPHX2

Linked Data

• dbSNP Id: rs1420288523
• gnomAD v2: 8-27358470-AGG-A
• MyVariant Identifiers: chr8:g.27358471_27358472del (hg19) ; chr8:g.27500954_27500955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500957_27500958del , CM000670.2:g.27500957_27500958del	GRCh38
NC_000008.10:g.27358474_27358475del , CM000670.1:g.27358474_27358475del	GRCh37
NC_000008.9:g.27414391_27414392del	NCBI36
NG_012064.1:g.14830_14831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.133_134del MANE Select	ENSP00000430269.1:p.Gly45ThrfsTer?
ENST00000380476.7:c.-20-7_-20-6del	ENSP00000369843.3:n.-20-7_-20-6del
ENST00000517536.5:c.133_134del	ENSP00000428875.1:p.Gly45ThrfsTer?
ENST00000518328.5:c.133_134del	ENSP00000430779.1:p.Gly45ThrfsTer?
ENST00000518379.5:c.133_134del	ENSP00000427956.1:p.Gly45ThrfsTer?
ENST00000520623.5:n.217_218del
ENST00000520666.1:n.145_146del
ENST00000521400.5:c.133_134del	ENSP00000430269.1:p.Gly45ThrfsTer?
ENST00000521684.1:c.132_133del
ENST00000521780.5:c.-12-2647_-12-2646del	ENSP00000430302.1:n.-12-2647_-12-2646del
ENST00000523827.1:n.356_357del
NM_001256482.1:c.-20-7_-20-6del	NP_001243411.1:n.-20-7_-20-6del
NM_001256483.1:c.-12-2647_-12-2646del	NP_001243412.1:n.-12-2647_-12-2646del
NM_001256484.1:c.-27_-26del	NP_001243413.1:n.-27_-26del
NM_001979.5:c.133_134del	NP_001970.2:p.Gly45ThrfsTer?
XM_017013199.1:c.133_134del	XP_016868688.1:p.Gly45ThrfsTer?
XM_017013200.1:c.133_134del	XP_016868689.1:p.Gly45ThrfsTer?
XR_001745491.1:n.191_192del
NM_001256482.2:c.-20-7_-20-6del	NP_001243411.1:n.-20-7_-20-6del
NM_001256483.2:c.-12-2647_-12-2646del	NP_001243412.1:n.-12-2647_-12-2646del
NM_001256484.2:c.-27_-26del	NP_001243413.1:n.-27_-26del
NM_001979.6:c.133_134del MANE Select	NP_001970.2:p.Gly45ThrfsTer?