Canonical Allele Identifier: CA370804504
Gene: EPHX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500931T>A , CM000670.2:g.27500931T>A GRCh38
NC_000008.10:g.27358448T>A , CM000670.1:g.27358448T>A GRCh37
NC_000008.9:g.27414365T>A NCBI36
NG_012064.1:g.14804T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.107T>A MANE Select ENSP00000430269.1:p.Leu36His
ENST00000380476.7:c.-20-33T>A ENSP00000369843.3:n.-20-33T>A
ENST00000517536.5:c.107T>A ENSP00000428875.1:p.Leu36His
ENST00000518328.5:c.107T>A ENSP00000430779.1:p.Leu36His
ENST00000518379.5:c.107T>A ENSP00000427956.1:p.Leu36His
ENST00000520623.5:n.191T>A
ENST00000520666.1:n.119T>A
ENST00000521400.5:c.107T>A ENSP00000430269.1:p.Leu36His
ENST00000521684.1:c.106T>A
ENST00000521780.5:c.-12-2673T>A ENSP00000430302.1:n.-12-2673T>A
ENST00000523827.1:n.330T>A
NM_001256482.1:c.-20-33T>A NP_001243411.1:n.-20-33T>A
NM_001256483.1:c.-12-2673T>A NP_001243412.1:n.-12-2673T>A
NM_001256484.1:c.-53T>A NP_001243413.1:n.-53T>A
NM_001979.5:c.107T>A NP_001970.2:p.Leu36His
XM_017013199.1:c.107T>A XP_016868688.1:p.Leu36His
XM_017013200.1:c.107T>A XP_016868689.1:p.Leu36His
XR_001745491.1:n.165T>A
NM_001256482.2:c.-20-33T>A NP_001243411.1:n.-20-33T>A
NM_001256483.2:c.-12-2673T>A NP_001243412.1:n.-12-2673T>A
NM_001256484.2:c.-53T>A NP_001243413.1:n.-53T>A
NM_001979.6:c.107T>A MANE Select NP_001970.2:p.Leu36His