Canonical Allele Identifier: CA174228244

Gene: EPHX2

Linked Data

• dbSNP Id: rs565274773
• gnomAD v2: 8-27358394-G-T
• gnomAD v3: 8-27500877-G-T
• gnomAD v4: 8-27500877-G-T
• MyVariant Identifiers: chr8:g.27358394G>T (hg19) ; chr8:g.27500877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500877G>T , CM000670.2:g.27500877G>T	GRCh38
NC_000008.10:g.27358394G>T , CM000670.1:g.27358394G>T	GRCh37
NC_000008.9:g.27414311G>T	NCBI36
NG_012064.1:g.14750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.102-49G>T MANE Select	ENSP00000430269.1:n.102-49G>T
ENST00000380476.7:c.-20-87G>T	ENSP00000369843.3:n.-20-87G>T
ENST00000517536.5:c.102-49G>T	ENSP00000428875.1:n.102-49G>T
ENST00000518328.5:c.102-49G>T	ENSP00000430779.1:n.102-49G>T
ENST00000518379.5:c.102-49G>T	ENSP00000427956.1:n.102-49G>T
ENST00000520623.5:n.186-49G>T
ENST00000520666.1:n.116-51G>T
ENST00000521400.5:c.102-49G>T	ENSP00000430269.1:n.102-49G>T
ENST00000521684.1:c.101-49G>T
ENST00000521780.5:c.-12-2727G>T	ENSP00000430302.1:n.-12-2727G>T
ENST00000523827.1:n.325-49G>T
NM_001256482.1:c.-20-87G>T	NP_001243411.1:n.-20-87G>T
NM_001256483.1:c.-12-2727G>T	NP_001243412.1:n.-12-2727G>T
NM_001256484.1:c.-56-51G>T	NP_001243413.1:n.-56-51G>T
NM_001979.5:c.102-49G>T	NP_001970.2:n.102-49G>T
XM_017013199.1:c.102-49G>T	XP_016868688.1:n.102-49G>T
XM_017013200.1:c.102-49G>T	XP_016868689.1:n.102-49G>T
XR_001745491.1:n.160-49G>T
NM_001256482.2:c.-20-87G>T	NP_001243411.1:n.-20-87G>T
NM_001256483.2:c.-12-2727G>T	NP_001243412.1:n.-12-2727G>T
NM_001256484.2:c.-56-51G>T	NP_001243413.1:n.-56-51G>T
NM_001979.6:c.102-49G>T MANE Select	NP_001970.2:n.102-49G>T