Canonical Allele Identifier: CA2686682357

Gene: EPHX2

Linked Data

• gnomAD v4: 8-27500930-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500932del , CM000670.2:g.27500932del	GRCh38
NC_000008.10:g.27358449del , CM000670.1:g.27358449del	GRCh37
NC_000008.9:g.27414366del	NCBI36
NG_012064.1:g.14805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.108del MANE Select	ENSP00000430269.1:p.Leu37Ter
ENST00000380476.7:c.-20-32del	ENSP00000369843.3:n.-20-32del
ENST00000517536.5:c.108del	ENSP00000428875.1:p.Leu37Ter
ENST00000518328.5:c.108del	ENSP00000430779.1:p.Leu37Ter
ENST00000518379.5:c.108del	ENSP00000427956.1:p.Leu37Ter
ENST00000520623.5:n.192del
ENST00000520666.1:n.120del
ENST00000521400.5:c.108del	ENSP00000430269.1:p.Leu37Ter
ENST00000521684.1:c.107del
ENST00000521780.5:c.-12-2672del	ENSP00000430302.1:n.-12-2672del
ENST00000523827.1:n.331del
NM_001256482.1:c.-20-32del	NP_001243411.1:n.-20-32del
NM_001256483.1:c.-12-2672del	NP_001243412.1:n.-12-2672del
NM_001256484.1:c.-52del	NP_001243413.1:n.-52del
NM_001979.5:c.108del	NP_001970.2:p.Leu37Ter
XM_017013199.1:c.108del	XP_016868688.1:p.Leu37Ter
XM_017013200.1:c.108del	XP_016868689.1:p.Leu37Ter
XR_001745491.1:n.166del
NM_001256482.2:c.-20-32del	NP_001243411.1:n.-20-32del
NM_001256483.2:c.-12-2672del	NP_001243412.1:n.-12-2672del
NM_001256484.2:c.-52del	NP_001243413.1:n.-52del
NM_001979.6:c.108del MANE Select	NP_001970.2:p.Leu37Ter