Canonical Allele Identifier: CA370804672
Gene: EPHX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500964A>T , CM000670.2:g.27500964A>T GRCh38
NC_000008.10:g.27358481A>T , CM000670.1:g.27358481A>T GRCh37
NC_000008.9:g.27414398A>T NCBI36
NG_012064.1:g.14837A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.140A>T MANE Select ENSP00000430269.1:p.Glu47Val
ENST00000380476.7:c.-20A>T ENSP00000369843.3:n.-20A>T
ENST00000517536.5:c.140A>T ENSP00000428875.1:p.Glu47Val
ENST00000518328.5:c.140A>T ENSP00000430779.1:p.Glu47Val
ENST00000518379.5:c.140A>T ENSP00000427956.1:p.Glu47Val
ENST00000520623.5:n.224A>T
ENST00000520666.1:n.152A>T
ENST00000521400.5:c.140A>T ENSP00000430269.1:p.Glu47Val
ENST00000521684.1:c.139A>T
ENST00000521780.5:c.-12-2640A>T ENSP00000430302.1:n.-12-2640A>T
ENST00000523827.1:n.363A>T
NM_001256482.1:c.-20A>T NP_001243411.1:n.-20A>T
NM_001256483.1:c.-12-2640A>T NP_001243412.1:n.-12-2640A>T
NM_001256484.1:c.-20A>T NP_001243413.1:n.-20A>T
NM_001979.5:c.140A>T NP_001970.2:p.Glu47Val
XM_017013199.1:c.140A>T XP_016868688.1:p.Glu47Val
XM_017013200.1:c.140A>T XP_016868689.1:p.Glu47Val
XR_001745491.1:n.198A>T
NM_001256482.2:c.-20A>T NP_001243411.1:n.-20A>T
NM_001256483.2:c.-12-2640A>T NP_001243412.1:n.-12-2640A>T
NM_001256484.2:c.-20A>T NP_001243413.1:n.-20A>T
NM_001979.6:c.140A>T MANE Select NP_001970.2:p.Glu47Val