Canonical Allele Identifier: CA850410076

Gene: EPHX2

Linked Data

• dbSNP Id: rs1318265961
• gnomAD v4: 8-27501127-ATGT-A
• MyVariant Identifiers: chr8:g.27358645_27358647del (hg19) ; chr8:g.27501128_27501130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27501132_27501134del , CM000670.2:g.27501132_27501134del	GRCh38
NC_000008.10:g.27358649_27358651del , CM000670.1:g.27358649_27358651del	GRCh37
NC_000008.9:g.27414566_27414568del	NCBI36
NG_012064.1:g.15005_15007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.186+122_186+124del MANE Select	ENSP00000430269.1:n.186+122_186+124del
ENST00000380476.7:c.27+122_27+124del	ENSP00000369843.3:n.27+122_27+124del
ENST00000517536.5:c.186+122_186+124del	ENSP00000428875.1:n.186+122_186+124del
ENST00000518328.5:c.186+122_186+124del	ENSP00000430779.1:n.186+122_186+124del
ENST00000518379.5:c.186+122_186+124del	ENSP00000427956.1:n.186+122_186+124del
ENST00000520623.5:n.270+122_270+124del
ENST00000520666.1:n.198+122_198+124del
ENST00000521400.5:c.186+122_186+124del	ENSP00000430269.1:n.186+122_186+124del
ENST00000521684.1:c.185+122_185+124del
ENST00000521780.5:c.-12-2472_-12-2470del	ENSP00000430302.1:n.-12-2472_-12-2470del
ENST00000523827.1:n.409+122_409+124del
NM_001256482.1:c.27+122_27+124del	NP_001243411.1:n.27+122_27+124del
NM_001256483.1:c.-12-2472_-12-2470del	NP_001243412.1:n.-12-2472_-12-2470del
NM_001256484.1:c.27+122_27+124del	NP_001243413.1:n.27+122_27+124del
NM_001979.5:c.186+122_186+124del	NP_001970.2:n.186+122_186+124del
XM_017013199.1:c.186+122_186+124del	XP_016868688.1:n.186+122_186+124del
XM_017013200.1:c.186+122_186+124del	XP_016868689.1:n.186+122_186+124del
XR_001745491.1:n.244+122_244+124del
NM_001256482.2:c.27+122_27+124del	NP_001243411.1:n.27+122_27+124del
NM_001256483.2:c.-12-2472_-12-2470del	NP_001243412.1:n.-12-2472_-12-2470del
NM_001256484.2:c.27+122_27+124del	NP_001243413.1:n.27+122_27+124del
NM_001979.6:c.186+122_186+124del MANE Select	NP_001970.2:n.186+122_186+124del