Canonical Allele Identifier: CA460047039
Gene: EPHX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.27358521T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27501004T>C , CM000670.2:g.27501004T>C GRCh38
NC_000008.10:g.27358521T>C , CM000670.1:g.27358521T>C GRCh37
NC_000008.9:g.27414438T>C NCBI36
NG_012064.1:g.14877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.180T>C MANE Select ENSP00000430269.1:p.Leu60=
ENST00000380476.7:c.21T>C ENSP00000369843.3:p.Leu7=
ENST00000517536.5:c.180T>C ENSP00000428875.1:p.Leu60=
ENST00000518328.5:c.180T>C ENSP00000430779.1:p.Leu60=
ENST00000518379.5:c.180T>C ENSP00000427956.1:p.Leu60=
ENST00000520623.5:n.264T>C
ENST00000520666.1:n.192T>C
ENST00000521400.5:c.180T>C ENSP00000430269.1:p.Leu60=
ENST00000521684.1:c.179T>C
ENST00000521780.5:c.-12-2600T>C ENSP00000430302.1:n.-12-2600T>C
ENST00000523827.1:n.403T>C
NM_001256482.1:c.21T>C NP_001243411.1:p.Leu7=
NM_001256483.1:c.-12-2600T>C NP_001243412.1:n.-12-2600T>C
NM_001256484.1:c.21T>C NP_001243413.1:p.Leu7=
NM_001979.5:c.180T>C NP_001970.2:p.Leu60=
XM_017013199.1:c.180T>C XP_016868688.1:p.Leu60=
XM_017013200.1:c.180T>C XP_016868689.1:p.Leu60=
XR_001745491.1:n.238T>C
NM_001256482.2:c.21T>C NP_001243411.1:p.Leu7=
NM_001256483.2:c.-12-2600T>C NP_001243412.1:n.-12-2600T>C
NM_001256484.2:c.21T>C NP_001243413.1:p.Leu7=
NM_001979.6:c.180T>C MANE Select NP_001970.2:p.Leu60=