Canonical Allele Identifier: CA4689888

Gene: EPHX2

Linked Data

• dbSNP Id: rs779884282
• ExAC: 8:27358413 A / T
• gnomAD v2: 8-27358413-A-T
• gnomAD v4: 8-27500896-A-T
• MyVariant Identifiers: chr8:g.27358413A>T (hg19) ; chr8:g.27500896A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500896A>T , CM000670.2:g.27500896A>T	GRCh38
NC_000008.10:g.27358413A>T , CM000670.1:g.27358413A>T	GRCh37
NC_000008.9:g.27414330A>T	NCBI36
NG_012064.1:g.14769A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.102-30A>T MANE Select	ENSP00000430269.1:n.102-30A>T
ENST00000380476.7:c.-20-68A>T	ENSP00000369843.3:n.-20-68A>T
ENST00000517536.5:c.102-30A>T	ENSP00000428875.1:n.102-30A>T
ENST00000518328.5:c.102-30A>T	ENSP00000430779.1:n.102-30A>T
ENST00000518379.5:c.102-30A>T	ENSP00000427956.1:n.102-30A>T
ENST00000520623.5:n.186-30A>T
ENST00000520666.1:n.116-32A>T
ENST00000521400.5:c.102-30A>T	ENSP00000430269.1:n.102-30A>T
ENST00000521684.1:c.101-30A>T
ENST00000521780.5:c.-12-2708A>T	ENSP00000430302.1:n.-12-2708A>T
ENST00000523827.1:n.325-30A>T
NM_001256482.1:c.-20-68A>T	NP_001243411.1:n.-20-68A>T
NM_001256483.1:c.-12-2708A>T	NP_001243412.1:n.-12-2708A>T
NM_001256484.1:c.-56-32A>T	NP_001243413.1:n.-56-32A>T
NM_001979.5:c.102-30A>T	NP_001970.2:n.102-30A>T
XM_017013199.1:c.102-30A>T	XP_016868688.1:n.102-30A>T
XM_017013200.1:c.102-30A>T	XP_016868689.1:n.102-30A>T
XR_001745491.1:n.160-30A>T
NM_001256482.2:c.-20-68A>T	NP_001243411.1:n.-20-68A>T
NM_001256483.2:c.-12-2708A>T	NP_001243412.1:n.-12-2708A>T
NM_001256484.2:c.-56-32A>T	NP_001243413.1:n.-56-32A>T
NM_001979.6:c.102-30A>T MANE Select	NP_001970.2:n.102-30A>T